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Results for 'Fryns Jp'
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Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations Publication Year: 1993
DOI: https://doi.org/10.1111/j.1399-0004.1993.tb03901.x
Abstract:
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Authors:
AD Hanssen
H. Werquin
E. Suys
J. P. Fryns
Full 69,XXY triploidy and sex‐reversal: a further example of true hermaphrodism associated with multiple malformations Publication Year: 1992
DOI: https://doi.org/10.1111/j.1399-0004.1992.tb03658.x
Abstract:
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Authors:
P. Petit
Ph. Moerman
J P Fryns
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3‐q23 Publication Year: 1993
DOI: https://doi.org/10.1111/j.1399-0004.1993.tb03867.x
Abstract:
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Authors:
J. P. Fryns
Petter Strømme
Herman Van den Berghe
The hand‐foot‐genital syndrome: on the variable expression in affected males Publication Year: 1993
DOI: https://doi.org/10.1111/j.1399-0004.1993.tb03808.x
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Authors:
J. P. Fryns
Annick Vogels
P Decock
Herman Van den Berghe
Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height Publication Year: 1993
DOI: https://doi.org/10.1111/j.1399-0004.1993.tb03868.x
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Authors:
Eric Legius
M. Mulier
Bart Van Damme
J. P. Fryns
Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome Publication Year: 2008
DOI: https://doi.org/10.1111/j.1399-0004.1993.tb03822.x
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Authors:
D. M. Loan
Valerica Belengeanu
C Maximilian
J. P. Fryns
Severe mental retardation ‐ distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a lOq25→qter deletion Publication Year: 1998
DOI: https://doi.org/10.1111/j.1399-0004.1998.tb04289.x
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Authors:
T. Lukusa
Koenraad Devriendt
Maureen Holvoet
JP Fryns
Severe pre‐ and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity Publication Year: 1992
DOI: https://doi.org/10.1111/j.1399-0004.1992.tb03621.x
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Authors:
C Grubben
P. da Cecil
M. Borghgrae
Herman Van den Berghe
J. P. Fryns
Invited Editorial Comment: Lessons From Conjoined Twins Publication Year: 1987
DOI: DOI not
available
Abstract:
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Authors:
Geoffrey A. Machin
G.H. Sperber
MCA/MR syndrome with features of Hallermann‐Streiff syndrome and 4q deficiency/ 14q duplication Publication Year: 1993
DOI: https://doi.org/10.1111/j.1399-0004.1993.tb03866.x
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Authors:
J. P. Fryns
Martine Borghgraef
F Lemmens
Herman Van den Berghe
Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. Publication Year: 1989
DOI: https://doi.org/10.1136/jmg.26.12.786
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Authors:
J Raine
R M Winter
A Davey
Susan M. Tucker
An Autopsy Case of Congenital Pulmonary Lymphangiectasis Masquerading as Pulmonary Interstitial Emphysema Publication Year: 2012
DOI: https://doi.org/10.5772/31453
Abstract:
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Authors:
Sohsuke Yamada
Yasuyuki Sasaguri
Recommendations for the Diagnosis and Management of Prader-Willi Syndrome Publication Year: 2008
DOI: https://doi.org/10.1210/jc.2008-0649
Abstract:
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Authors:
Anthony P. Goldstone
Anthony Holland
B. P. Hauffa
Anita C. S. Hokken‐Koelega
M. Tauber
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases Publication Year: 2014
DOI: https://doi.org/10.1038/ejhg.2014.95
Abstract:
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Authors:
Alain Verloès
Nataliya Di Donato
Julien Masliah‐Planchon
Marjolijn C.J. Jongmans
Omar A Abdul-Raman
Beate Albrecht
Judith Allanson
Han G. Brunner
Débora Romeo Bertola
Nicolas Chassaing
Albert David
Koenraad Devriendt
Pirayeh Eftekhari
Valérie Drouin‐Garraud
Francesca Faravelli
Laurence Faivre
Fabienne Giuliano
Leina Guion Almeida
Jorge L. Juncos
Marlies Kempers
Hatice Koçak Eker
Didier Lacombe
Angela E. Lin
Grazia M.S. Mancini
Daniela Melis
Charles Marques Lourenço
Victoria Mok Siu
G Morin
Marjan M. Nezarati
Małgorzata J.M. Nowaczyk
Jeanette C. Ramer
Sara Osimani
Nicole Philip
Mary Ella Pierpont
Vincent Procaccio
Zeichi-Seide Roseli
Massimiliano Rossi
Cristina Rusu
Yves Sznajer
Ludivine Templin
Vera Uliana
Mirjam Klaus
Bregje W.M. van Bon
Conny van Ravenswaaij
Bruce H. Wainer
Andrew E. Fry
Andreas Rump
Alexander Hoischen
Séverine Drunat
Jean‐Baptiste Rivière
William B. Dobyns
Daniela T. Pilz
X‐linked neuropathy: Gene localization with DNA probes Publication Year: 1986
DOI: https://doi.org/10.1002/ana.410200414
Abstract:
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Authors:
Kenneth H. Fischbeck
Nada ar‐Rushdi
Margaret A. Pericak‐Vance
Marvin P. Rozear
Allen D. Roses
J. P. Fryns
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