Results 161 to 170 of about 13,805 (257)
A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing. [PDF]
Hum Genome VarSuga K, Sato H, Suzue M, Honma Y, Hayabuchi Y, Nakagawa R, Shinomiya K, Okamoto N, Inoue Y, Tsuchida N, Matsumoto N, Morino H, Izumi Y, Urushihara M. +13 moreeuropepmc +1 more sourceVentriculomegaly, Intrauterine Growth Restriction, and Congenital Heart Defects as Salient Prenatal Sonographic Findings of Miller-Dieker Lissencephaly Syndrome Associated With Monosomy 17p (17p13.2 → pter) in a Fetus
, 2010 Chih‐Ping Chen, Yu‐Peng Liu, Shaun-Pei Lin, Ming Chen, Fuu‐Jen Tsai, Yuting Chen, Li-Feng Chen, Jonathan Kwei Hwang, Wayseen Wang +8 moreopenalex +1 more sourceDeep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review. [PDF]
BMC Med GenomicsJi X, Xu Q, Lu Y, Liu B, Xiao F, Ni Q, Xu S, Liu R, Li G, Wu B, Zhou S, Wang H. +11 moreeuropepmc +1 more sourceCobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
, 2012 Louise Devisme, C Bouchet, Marie Gonzalès, Elisabeth Alanio, Anne Bazin, Bettina Bessières, Nicole Bigi, Patricia Blanchet, Dominique Bonneau, Maryse Bonnières, Martine Bucourt, Dominique Carles, Bénédicte Clarisse, Sophie Delahaye, Catherine Fallet‐Bianco, Dominique Figarella‐Branger, Dominique Gaillard, Bernard Gasser, Anne‐Lise Delezoide, Fabien Guimiot, Madeleine Joubert, Nicole Laurent, Annie Laquerrière, Agnès Liprandi, Philippe Loget, Pascale Marcorelles, Jéléna Martinovic, Françoise Ménez, Sophie Patrier, Fanny Pelluard, Marie-José Perez, Caroline Rouleau, Stéphane Triau, Tania Attié‐Bitach, Sandrine Vuillaumier‐Barrot, Nathalie Séta, Férechté Encha‐Razavi +36 moreopenalex +1 more sourceFetal malformations of cortical development: review and clinical guidance. [PDF]
BrainRuss JB, Agarwal S, Venkatesan C, Scelsa B, Vollmer B, Tarui T, Pardo AC, Lemmon ME, Mulkey SB, Hart AR, Nagaraj UD, Kuller JA, Whitehead MT, Cohen JL, Gebb JS, Glenn OA, Norton ME, Gano D. +17 moreeuropepmc +1 more sourceSpatial Proteomics Reveals Distinct Protein Patterns in Cortical Migration Disorders Caused by LIN28A Overexpression and WNT Activation. [PDF]
Mol Cell ProteomicsNavolić J, Hawass S, Moritz M, Hahn J, Middelkamp M, Gocke A, Dottermusch M, Schumann Y, Ruck L, Krisp C, Godbole S, Sumislawski P, Köppen N, Gargioni E, Schlüter H, Neumann JE. +15 moreeuropepmc +1 more source
