Ngā hua rapu kaituhi :: APM

1

Updated diagnostic criteria for CHARGE syndrome: A proposal mā Alain Verloès

I whakaputaina 2005

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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2

CHARGE syndrome: an update mā Damien Sanlaville, Alain Verloès

I whakaputaina 2007

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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3

Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees mā Alain Verloès, Natzi Sakalihasan, L Koulischer, Raymond Limet

I whakaputaina 1995

Whiwhi kuputuhi katoa
Artigo

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4

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis mā José Brás, Alain Verloès, Susanne A. Schneider, Sara Mole, Rita Guerreiro

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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5

Golgipathies in Neurodevelopment: A New View of Old Defects mā Sowmyalakshmí Rasika, Sandrine Passemard, Alain Verloès, Pierre Gressèns, Vincent El Ghouzzi

I whakaputaina 2018

Whiwhi kuputuhi katoa
Revisão

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6

Elements of morphology: Standard terminology for the lips, mouth, and oral region mā John C. Carey, M. Michael Cohen, Cynthia J. Curry, Koenraad Devriendt, Lewis B. Holmes, Alain Verloès

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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7

Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis mā Bruce D. Gelb, Judith P. Willner, Teresa Dunn, Nataline B. Kardon, Alain Verloès, Jacques Poncin, Robert J. Desnick

I whakaputaina 1998

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother mā Anne‐Claude Tabet, Marion Pilorge, Richard Delorme, Frédérique Amsellem, Jean-Marc Pinard, Marion Leboyer, Alain Verloès, Brigitte Benzacken, Catalina Betancur

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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9

Autism, language delay and mental retardation in a patient with 7q11 duplication mā Christel Depienne, Delphine Héron, Catalina Betancur, B Benyahia, Oriane Trouillard, Delphine Bouteiller, Alain Verloès, Eric LeGuern, Marion Leboyer, Alexis Brice

I whakaputaina 2007

Whiwhi kuputuhi katoa
Carta

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10

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. mā Lydie Bürglen, Jeanne Amiel, Louis Viollet, S. Lefebvre, P Burlet, Olivier Clermont, Valérie Raclin, P. Landrieu, Alain Verloès, Arnold Münnich, Judith Melki

I whakaputaina 1996

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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11

Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations mā Nataliya Di Donato, Andreas Rump, Rainer Koenig, Vazken M. Der Kaloustian, Fahed Halal, K. Sonntag, Crystal Krause, Karl Hackmann, Gabriele Hahn, Evelin Schröck, Alain Verloès

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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12

Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases mā Jacques Poncin, Roger Abs, Brigitte Velkeniers, M Bonduelle, Marc Abramowicz, Jean‐Jacques Legros, Alain Verloès, Michel Meurisse, Luc Van Gaal, Christine Verellen, L Koulischer, Albert Beckers

I whakaputaina 1999

Whiwhi kuputuhi katoa
Artigo

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13

Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype mā Sylvie Tordjman, George M. Anderson, Michel Botbol, Annick Toutain, Pierre Sarda, Michèle Carlier, Pascale Saugier‐Veber, Clarisse Baumann, David Cohen, Céline Lagneaux, Anne‐Claude Tabet, Alain Verloès

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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14

Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype? mā Judith Allanson, Göran Annerén, Yoki Aoki, Christine M. Armour, Marie‐Louise Bondeson, Hélène Cavé, Karen W. Gripp, Bronwyn Kerr, Anna‐Maja Nyström, Katia Sol‐Church, Alain Verloès, Martin Zenker

I whakaputaina 2011

Whiwhi kuputuhi katoa
Artigo

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15

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons mā Brian Harding, Amanda Moccia, Séverine Drunat, Omar Soukarieh, Hélène Tubeuf, Lyn S. Chitty, Alain Verloès, Pierre Gressèns, Vincent El Ghouzzi, Sylvie Joriot, Ferdinando Di Cunto, Alexandra Martins, Sandrine Passemard, Stephanie Bielas

I whakaputaina 2016

Whiwhi kuputuhi katoa
Artigo

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16

Mutation screening of the <i>PTEN</i> gene in patients with autism spectrum disorders and macrocephaly mā Joseph D. Buxbaum, Guiqing Cai, Pauline Chaste, Gudrun Nygren, Juliet Goldsmith, Jennifer Reichert, Henrik Anckarsäter, Maria Råstam, Christopher J. Smith, Jeremy M. Silverman, Eric Hollander, Marion Leboyer, Christopher Gillberg, Alain Verloès, Catalina Betancur

I whakaputaina 2007

Whiwhi kuputuhi katoa
Artigo

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17

Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee mā David R. Adams, Clara D. van Karnebeek, Sergi Beltrán, Víctor Faúndes, Saumya Shekhar Jamuar, Sally Ann Lynch, Guillem Pintos‐Morell, Ratna Dua Puri, Ruty Mehrian‐Shai, Charles A. Steward, Birutė Tumienė, Alain Verloès

I whakaputaina 2024

Whiwhi kuputuhi katoa
Artigo

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18

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene mā Lionel Van Maldergem, H. Annika Siitonen, Nadine Jalkh, Éliane Chouery, M De Roy, Valérie Delague, Maximilian Muenke, Ethylin Wang Jabs, Juanliang Cai, LL Wang, Sharon E. Plon, Catherine Fourneau, Marjo Kestilä, Y. Gillerot, André Mégarbané, Alain Verloès

I whakaputaina 2005

Whiwhi kuputuhi katoa
Artigo

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19

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes mā Claire Redin, Stéphanie Le Gras, O. M'hamdi, Véronique Geoffroy, Corinne Stoetzel, Marie‐Claire Vincent, Pietro Chiurazzi, Didier Lacombe, Inès Ouertani, Florence Petit, Marianne Till, Alain Verloès, Bernard Jost, Habiba Chaâbouni, Hélène Dollfus, Jean‐Louis Mandel, Jean Muller

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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20

Growth patterns of patients with Noonan syndrome: correlation with age and genotype mā Catie Cessans, Virginie Ehlinger, Catherine Arnaud, Armelle Yart, Yline Capri, Pascal Barat, B. Cammas, Didier Lacombe, R. Coutant, Albert David, Sabine Baron, Jacques Weill, Bruno Leheup, Marc Nicolino, Jean‐Pierre Salles, Alain Verloès, Maïthé Tauber, Hélène Cavé, Thomas Édouard

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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