Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2106315942', 'doi': 'https://doi.org/10.1046/j.1365-2265.1996.714536.x', 'title': "Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome", 'display_name': "Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome", 'publication_year': 1996, 'publication_date': '1996-04-01', 'ids': {'openalex': 'https://openalex.org/W2106315942', 'doi': 'https://doi.org/10.1046/j.1365-2265.1996.714536.x', 'mag': '2106315942', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/8706311'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1046/j.1365-2265.1996.714536.x', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S182143151', 'display_name': 'Clinical Endocrinology', 'issn_l': '0300-0664', 'issn': ['0300-0664', '1365-2265'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5045641343', 'display_name': 'Eleanor Gausden', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I153648349', 'display_name': 'University of Leicester', 'ror': 'https://ror.org/04h699437', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I153648349']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Eleanor Gausden', 'raw_affiliation_strings': ['Department of Genetics, University of Leicester, , UK'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics, University of Leicester, , UK', 'institution_ids': ['https://openalex.org/I153648349']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5024351424', 'display_name': 'John A.L. Armour', 'orcid': 'https://orcid.org/0000-0002-8558-8506'}, 'institutions': [{'id': 'https://openalex.org/I153648349', 'display_name': 'University of Leicester', 'ror': 'https://ror.org/04h699437', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I153648349']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'John A. L. Armour', 'raw_affiliation_strings': ['Department of Genetics and Department of Medicine and Therapeutics, University of Leicester, LE1 7RH, UK'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics and Department of Medicine and Therapeutics, University of Leicester, LE1 7RH, UK', 'institution_ids': ['https://openalex.org/I153648349']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5073293416', 'display_name': 'Beth Coyle', 'orcid': 'https://orcid.org/0000-0003-2957-1862'}, 'institutions': [{'id': 'https://openalex.org/I153648349', 'display_name': 'University of Leicester', 'ror': 'https://ror.org/04h699437', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I153648349']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Beth Coyle', 'raw_affiliation_strings': ['Department of Genetics and Department of Medicine and Therapeutics, University of Leicester, LE1 7RH, UK'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics and Department of Medicine and Therapeutics, University of Leicester, LE1 7RH, UK', 'institution_ids': ['https://openalex.org/I153648349']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5110348353', 'display_name': 'Rebecca Coffey', 'orcid': 'https://orcid.org/0000-0002-3783-7600'}, 'institutions': [{'id': 'https://openalex.org/I124357947', 'display_name': 'University of London', 'ror': 'https://ror.org/04cw6st05', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I124357947']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Rebecca Coffey', 'raw_affiliation_strings': ['Department of Clinical Genetics and Fetal Medicine Institute of Child Health, University of London, 30 Guilford Street, London WC1N 1EH, UK'], 'affiliations': [{'raw_affiliation_string': 'Department of Clinical Genetics and Fetal Medicine Institute of Child Health, University of London, 30 Guilford Street, London WC1N 1EH, UK', 'institution_ids': ['https://openalex.org/I124357947']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5045828711', 'display_name': 'Ze’ev Hochberg', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2801301638', 'display_name': 'Rambam Health Care Campus', 'ror': 'https://ror.org/01fm87m50', 'country_code': 'IL', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801301638']}], 'countries': ['IL'], 'is_corresponding': False, 'raw_author_name': "Ze'ev Hochberg", 'raw_affiliation_strings': ['Division of Endocrinology, Department of Paediatrics, Rambam Medical Centre, POB 9649, Haifa 31096, Israel'], 'affiliations': [{'raw_affiliation_string': 'Division of Endocrinology, Department of Paediatrics, Rambam Medical Centre, POB 9649, Haifa 31096, Israel', 'institution_ids': ['https://openalex.org/I2801301638']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5008702851', 'display_name': 'Marcus Pembrey', 'orcid': 'https://orcid.org/0000-0001-9482-6177'}, 'institutions': [{'id': 'https://openalex.org/I124357947', 'display_name': 'University of London', 'ror': 'https://ror.org/04cw6st05', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I124357947']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Marcus Pembrey', 'raw_affiliation_strings': ['Department of Clinical Genetics and Fetal Medicine Institute of Child Health, University of London, 30 Guilford Street, London WC1N 1EH, UK'], 'affiliations': [{'raw_affiliation_string': 'Department of Clinical Genetics and Fetal Medicine Institute of Child Health, University of London, 30 Guilford Street, London WC1N 1EH, UK', 'institution_ids': ['https://openalex.org/I124357947']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5109182340', 'display_name': 'K. E. Britton', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I1307195382', 'display_name': "St Bartholomew's Hospital", 'ror': 'https://ror.org/00nh9x179', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1307195382', 'https://openalex.org/I225661044']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Keith E. Britton', 'raw_affiliation_strings': ["Departments of Endocrinology and Nuclear Medicine, St Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK"], 'affiliations': [{'raw_affiliation_string': "Departments of Endocrinology and Nuclear Medicine, St Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK", 'institution_ids': ['https://openalex.org/I1307195382']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5046852415', 'display_name': 'Ashley Grossman', 'orcid': 'https://orcid.org/0000-0003-1176-6186'}, 'institutions': [{'id': 'https://openalex.org/I1307195382', 'display_name': "St Bartholomew's Hospital", 'ror': 'https://ror.org/00nh9x179', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1307195382', 'https://openalex.org/I225661044']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Ashley Grossman', 'raw_affiliation_strings': ["Departments of Endocrinology and Nuclear Medicine, St Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK"], 'affiliations': [{'raw_affiliation_string': "Departments of Endocrinology and Nuclear Medicine, St Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK", 'institution_ids': ['https://openalex.org/I1307195382']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5033243561', 'display_name': 'William Reardon', 'orcid': 'https://orcid.org/0000-0001-7329-9179'}, 'institutions': [{'id': 'https://openalex.org/I124357947', 'display_name': 'University of London', 'ror': 'https://ror.org/04cw6st05', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I124357947']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'William Reardon', 'raw_affiliation_strings': ['Department of Clinical Genetics and Fetal Medicine Institute of Child Health, University of London, 30 Guilford Street, London WC1N 1EH, UK'], 'affiliations': [{'raw_affiliation_string': 'Department of Clinical Genetics and Fetal Medicine Institute of Child Health, University of London, 30 Guilford Street, London WC1N 1EH, UK', 'institution_ids': ['https://openalex.org/I124357947']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5035332968', 'display_name': 'Richard C. Trembath', 'orcid': 'https://orcid.org/0000-0003-0550-3400'}, 'institutions': [{'id': 'https://openalex.org/I153648349', 'display_name': 'University of Leicester', 'ror': 'https://ror.org/04h699437', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I153648349']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Richard Trembath', 'raw_affiliation_strings': ['Department of Genetics and Department of Medicine and Therapeutics, University of Leicester, LE1 7RH, UK'], 'affiliations': [{'raw_affiliation_string': 'Department of Genetics and Department of Medicine and Therapeutics, University of Leicester, LE1 7RH, UK', 'institution_ids': ['https://openalex.org/I153648349']}]}], 'institution_assertions': [], 'countries_distinct_count': 2, 'institutions_distinct_count': 4, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 4330, 'currency': 'USD', 'value_usd': 4330, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 1.238, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 15, 'citation_normalized_percentile': {'value': 0.657234, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 81, 'max': 82}, 'biblio': {'volume': '44', 'issue': '4', 'first_page': '441', 'last_page': '446'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10293', 'display_name': 'Thyroid Disorders and Treatments', 'score': 0.9874, 'subfield': {'id': 'https://openalex.org/subfields/2712', 'display_name': 'Endocrinology, Diabetes and Metabolism'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10293', 'display_name': 'Thyroid Disorders and Treatments', 'score': 0.9874, 'subfield': {'id': 'https://openalex.org/subfields/2712', 'display_name': 'Endocrinology, Diabetes and Metabolism'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T10334', 'display_name': 'Hearing, Cochlea, Tinnitus, Genetics', 'score': 0.9567, 'subfield': {'id': 'https://openalex.org/subfields/2809', 'display_name': 'Sensory Systems'}, 'field': {'id': 'https://openalex.org/fields/28', 'display_name': 'Neuroscience'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T12631', 'display_name': 'Head and Neck Anomalies', 'score': 0.9366, 'subfield': {'id': 'https://openalex.org/subfields/2746', 'display_name': 'Surgery'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/organification', 'display_name': 'Organification', 'score': 0.65810853}, {'id': 'https://openalex.org/keywords/thyroid-peroxidase', 'display_name': 'Thyroid peroxidase', 'score': 0.61269695}, {'id': 'https://openalex.org/keywords/thyroid-disease', 'display_name': 'Thyroid disease', 'score': 0.4892988}], 'concepts': [{'id': 'https://openalex.org/C2779123554', 'wikidata': 'https://www.wikidata.org/wiki/Q7101880', 'display_name': 'Organification', 'level': 3, 'score': 0.65810853}, {'id': 'https://openalex.org/C180650514', 'wikidata': 'https://www.wikidata.org/wiki/Q419502', 'display_name': 'Thyroid peroxidase', 'level': 3, 'score': 0.61269695}, {'id': 'https://openalex.org/C134018914', 'wikidata': 'https://www.wikidata.org/wiki/Q162606', 'display_name': 'Endocrinology', 'level': 1, 'score': 0.5522645}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.51372445}, {'id': 'https://openalex.org/C2780176905', 'wikidata': 'https://www.wikidata.org/wiki/Q6673122', 'display_name': 'Thyroid disease', 'level': 3, 'score': 0.4892988}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.45958725}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.45856205}, {'id': 'https://openalex.org/C112672928', 'wikidata': 'https://www.wikidata.org/wiki/Q239526', 'display_name': 'Offspring', 'level': 3, 'score': 0.4487707}, {'id': 'https://openalex.org/C526584372', 'wikidata': 'https://www.wikidata.org/wiki/Q16399', 'display_name': 'Thyroid', 'level': 2, 'score': 0.43507183}, {'id': 'https://openalex.org/C2779954681', 'wikidata': 'https://www.wikidata.org/wiki/Q47715', 'display_name': 'Down syndrome', 'level': 2, 'score': 0.42068142}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.3219626}, {'id': 'https://openalex.org/C2779234561', 'wikidata': 'https://www.wikidata.org/wiki/Q11995', 'display_name': 'Pregnancy', 'level': 2, 'score': 0.060375303}], 'mesh': [{'descriptor_ui': 'D003638', 'descriptor_name': 'Deafness', 'qualifier_ui': 'Q000151', 'qualifier_name': 'congenital', 'is_major_topic': True}, {'descriptor_ui': 'D006042', 'descriptor_name': 'Goiter', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D007453', 'descriptor_name': 'Iodide Peroxidase', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D001483', 'descriptor_name': 'Base Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017931', 'descriptor_name': 'DNA Primers', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D003638', 'descriptor_name': 'Deafness', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D003638', 'descriptor_name': 'Deafness', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008040', 'descriptor_name': 'Genetic Linkage', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005838', 'descriptor_name': 'Genotype', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006042', 'descriptor_name': 'Goiter', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007453', 'descriptor_name': 'Iodide Peroxidase', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008126', 'descriptor_name': 'Lod Score', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D018598', 'descriptor_name': 'Minisatellite Repeats', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008969', 'descriptor_name': 'Molecular Sequence Data', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010375', 'descriptor_name': 'Pedigree', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D013577', 'descriptor_name': 'Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1046/j.1365-2265.1996.714536.x', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S182143151', 'display_name': 'Clinical Endocrinology', 'issn_l': '0300-0664', 'issn': ['0300-0664', '1365-2265'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/8706311', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': None, 'sustainable_development_goals': [{'score': 0.75, 'id': 'https://metadata.un.org/sdg/10', 'display_name': 'Reduced inequalities'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 0, 'referenced_works': [], 'related_works': ['https://openalex.org/W328032050', 'https://openalex.org/W2153213025', 'https://openalex.org/W2143615105', 'https://openalex.org/W2125123448', 'https://openalex.org/W2113802053', 'https://openalex.org/W2082853083', 'https://openalex.org/W2049679721', 'https://openalex.org/W2023224858', 'https://openalex.org/W1990297163', 'https://openalex.org/W1587330244'], 'abstract_inverted_index': {'OBJECTIVE': [0], "Pendred's": [1, 27, 74, 106, 153, 231, 259, 273, 299], 'syndrome': [2, 28, 274], 'is': [3], 'an': [4, 239, 245], 'association': [5, 45], 'between': [6, 46, 228], 'congenital': [7, 38, 159], 'neurosensory': [8], 'deafness': [9], 'and': [10, 50, 136, 163, 208, 230, 251], 'goitre': [11], 'with': [12, 117, 132, 238, 248], 'abnormal': [13], 'discharge': [14, 186], 'of': [15, 23, 34, 37, 43, 63, 88, 91, 152, 158, 169, 194, 203, 211, 219, 255, 265, 272, 298], 'iodide': [16, 24], 'following': [17], 'perchlorate': [18, 185], 'challenge,': [19], 'indicating': [20], 'a': [21, 127, 170, 182, 212, 253], 'defect': [22, 54, 72], 'organification.': [25], 'Although': [26], 'may': [29], 'cause': [30, 271, 297], 'up': [31], 'to': [32, 59, 96, 205], '7.5%': [33], 'all': [35], 'cases': [36], 'deafness,': [39], 'the': [40, 44, 47, 51, 61, 64, 70, 92, 114, 148, 156, 164, 198, 209, 220, 266, 270, 286, 295], 'molecular': [41], 'basis': [42], 'hearing': [48, 161], 'loss': [49, 162], 'thyroid': [52, 65, 287], 'organification': [53], 'remains': [55], 'unknown.': [56], 'We': [57, 123], 'chose': [58], 'investigate': [60], 'role': [62], 'peroxidase': [66, 288], '(TPO)': [67], 'gene': [68, 268], 'as': [69, 269], 'genetic': [71, 99, 256], 'in': [73, 101, 166, 235, 244], 'syndrome.': [75, 107, 232, 260, 300], 'DESIGN': [76], 'A': [77], 'highly': [78], 'informative': [79], 'variable': [80], 'number': [81], 'tandem': [82], 'repeat': [83], '(VNTR),': [84], 'located': [85], '1.5kb': [86], 'downstream': [87], 'exon': [89], '10': [90], 'TPO': [93, 199, 229, 243, 267], 'gene,was': [94], 'used': [95], 'search': [97], 'for': [98, 258], 'linkage': [100], 'multiple': [102], 'sibships': [103, 222], 'affected': [104, 121, 134, 144, 176, 236, 240, 246], 'by': [105], 'PATIENTS': [108], 'Seven': [109], 'kindreds': [110], 'were': [111, 142], 'recruited': [112], 'from': [113, 178], 'UK,': [115], 'each': [116, 179, 206], 'at': [118, 173, 197, 285], 'least': [119, 174], 'two': [120, 133, 262], 'members.': [122], 'have': [124], 'also': [125], 'examined': [126], 'large': [128], 'inbred': [129], 'Israeli': [130], 'family': [131], 'offspring': [135, 241], 'five': [137], 'unaffected': [138], 'children.': [139], 'MEASUREMENTS': [140], 'Individuals': [141], 'assigned': [143], 'status': [145], 'based': [146], 'on': [147, 290], 'characteristic': [149, 183], 'clinical': [150], 'features': [151], 'syndrome,': [154], 'namely': [155], 'presence': [157], 'sensorineural': [160], 'appearance': [165], 'early': [167], 'life': [168], 'goitre.': [171], 'Additionally,': [172], 'one': [175], 'member': [177], 'sibship': [180, 247], 'had': [181], 'positive': [184], 'test': [187], '(Morgans': [188], '&': [189], 'Trotter,': [190], '1958).': [191], 'PCR': [192], 'amplification': [193], 'genomic': [195], 'DNA': [196], 'VNTR': [200], 'allowed': [201], 'assignment': [202], 'genotypes': [204], 'individual': [207], 'calculation': [210], 'two‐point': [213], 'LOD': [214], 'score': [215], 'RESULTS': [216], 'In': [217, 261], 'six': [218], 'nine': [221], 'analysed': [223], 'we': [224], 'found': [225], 'obligatory': [226], 'recombination': [227], 'Non‐complementation': [233], 'observed': [234], 'parents': [237], 'excluded': [242], 'genotype': [249], 'sharing': [250], 'supports': [252], 'hypothesis': [254], 'homogeneity': [257], 'sibships,': [263], 'mutation': [264], 'could': [275], 'not': [276, 294], 'be': [277], 'excluded.': [278], 'CONCLUSIONS': [279], 'These': [280], 'data': [281], 'suggest': [282], 'that': [283], 'defects': [284], 'locus': [289], 'chromosome': [291], '2': [292], 'are': [293], 'major': [296]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2106315942', 'counts_by_year': [{'year': 2012, 'cited_by_count': 1}], 'updated_date': '2024-12-24T14:15:45.771504', 'created_date': '2016-06-24'}