Clinical Genetics

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Charcot‐Marie‐Tooth disease: Data for genetic counseling relating age to risk
Clinical Genetics - Tập 14 Số 1 - Trang 43-49 - 1978
Thomas D. Bird, George H. Kraft
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
Clinical Genetics - Tập 99 Số 5 - Trang 650-661 - 2021
Aurore Garde, Laurent Guibaud, Alice Goldenberg, Florence Petit, Rodolphe Dard, J. Roume, J. Mazereeuw‐Hautier, Nicolas Chassaing, Didier Lacombe, Fanny Morice‐Picard, Annick Toutain, Stéphanie Arpin, O. Boccara, Renaud Touraine, Patricia Blanchet, Christine Coubes, Marjolaine Willems, Lucile Pinson, Philippe Khau Van Kien, C. Chiavérini, Fabienne Giuliano, Jean‐Luc Alessandri, Michèle Mathieu‐Dramard, Gilles Morin, A.‐C. Bursztejn, Cyril Mignot, Diane Doummar, Frederico Di Rocco, Jenny Cornaton, Claire Nicolas, Élodie Gautier, Maxime Luu, Marc Bardou, Arthur Sorlin, Christophe Philippe, Patrick Edery, Massimiliano Rossi, Virginie Carmignac, Christel Thauvin‐Robinet, P. Vabres, Laurence Faivre
A Cys634Gly substitution of the RET proto‐oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis
Clinical Genetics - Tập 51 Số 2 - Trang 86-90 - 1997
Marco Seri, Iacopo Celli, Nicola Betsos, F Claudiani, G Camera, G. Romeo
Mitochondrial deafness
Clinical Genetics - Tập 71 Số 5 - Trang 379-391 - 2007
Haris Kokotas, MB Petersen, P J Willems
Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease
Clinical Genetics - Tập 6 Số 2 - Trang 98-118 - 1974
H Skre
Gene/environment causes of cleft lip and/or palate
Clinical Genetics - Tập 61 Số 4 - Trang 248-256 - 2002
JC Murray
Clinical and genetic heterogeneity of amyotrophic lateral sclerosis
Clinical Genetics - Tập 83 Số 5 - Trang 408-416 - 2013
Mario Sabatelli, Antonella Conte, Marcella Zollino
Low frequency of RET mutations in Hirschsprung disease in Sweden
Clinical Genetics - Tập 54 Số 1 - Trang 39-44 - 1998
Pär‐Johan Svensson, Marie‐Louise Molander, Charis Eng, Maria Anvret, Agneta Nordenskjöld
A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome
Clinical Genetics - Tập 65 Số 5 - Trang 400-404 - 2004
SJ Hassed, Deborah J. Hopcus-Niccum, L. Zhang, S. Li, JJ Mulvihill
The first nonsense mutation in alsin results in a homogeneous phenotype of infantile‐onset ascending spastic paralysis with bulbar involvement in two siblings
Clinical Genetics - Tập 64 Số 3 - Trang 210-215 - 2003
RS Devon, JR Helm, GA Rouleau, Yael Leitner, Tally Lerman‐Sagie, Dorit Lev, Michael R. Hayden
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