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Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice Coutton, Charles; Martinez, Guillaume; Kherraf, Zine-Eddine; Amiri-Yekta, Amir; ... Ray, Pierre F 2019
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Genetic Control of Gonadal Sex Determination and Development STEVANT, Isabelle; Nef, Serge 2019
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Deletion size analysis of 1,680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2 Guo, Tingwei; Diacou, Alexander; Hiroko, Nomaru; McDonald-McGinn, Donna M; ... Morrow, Bernice E 2018
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis Gueneau, Lucie; Fish, Richard; Shamseldin, Hanan E.; Voisin, Norine; ... Reymond, Alexandre 2018
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Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome Fiksinski, Ania M; Schneider, Maude; Murphy, CM; Armando, Marco; ... Vorstman, Jacob A S 2018
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The landscape of epilepsy-related GATOR1 variants Collaboration 2018
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In silico Analysis Suggests Common Appearance of scaRNAs in Type II Systems and Their Association With Bacterial Virulence Guzina, Jelena; Chen, Wei-Hua; Stankovic, Tamara; Djordjevic, Magdalena; ... Djordjevic, Marko 2018
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Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia Grimaldi, Mariagrazia; Karaca Emre, Melis; Latini, Livia; Brioudes, Estelle; ... Maechler, Pierre 2017
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SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stephanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian 2017
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The population genomics of archaeological transition in west Iberia: Investigation of ancient substructure using imputation and haplotype-based methods Martiniano, Rui; Cassidy, Lara M.; Ó'Maoldúin, Ros; McLaughlin, Russell; ... Bradley, Daniel G. 2017
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Mutations in the NOT Genes or in the Translation Machinery Similarly Display Increased Resistance to Histidine Starvation Collart, Martine; Kassem, Sari; Villanyi, Zoltan 2017
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Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay Ansar, Muhammad; Riazuddin, Saima; Sarwar, Muhammad Tahir; Makrythanasis, Periklis; ... Antonarakis, Stylianos E 2017
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Investigating population continuity with ancient DNA under a spatially explicit simulation framework Silva, Nuno; Rio, Jérémy Marc Xavier; Currat, Mathias 2017
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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; ... Valente, Enza Maria 2017
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Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology Ripperger, Tim; Von Bueren, André 2017
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU Korff, Christian; Bottani, Armand 2017
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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Ranza, Emmanuelle Nathalie; Korff, Christian 2017
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Returning Results: Let's Be Honest! Elger, Bernice Simone; De Clercq, Eva 2017
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Returning Results in Biobank Research: Global Trends and Solutions De Clercq, Eva; Kaye, Jane; Wolf, Susan M; Koenig, Barbara A; Elger, Bernice Simone 2017
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Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3 International Chromosome 22q11.2 Consortium, Brain and Behavior Consortium 2017
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