European Journal of Medical Genetics
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Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90

2022 ◽  
Vol 65 (1) ◽  
pp. 104403
Author(s):  
Dhanya Lakshmi Narayanan ◽  
Purvi Majethia ◽  
Aroor Shrikiran ◽  
Shahyan Siddiqui ◽  
Ashwin Dalal ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Heterozygous Variant

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases

2022 ◽  
pp. 104422
Author(s):  
Laura Mary ◽  
Alinoë Lavillaureix ◽  
Adélie Perrot ◽  
Philippe Loget ◽  
Erika Launay ◽  
...  
Keyword(s):  
Systematic Review

scholarly journals Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III

2022 ◽  
pp. 104424
Author(s):  
Silvy Dekker ◽  
Carlijn G.E. Thijssen ◽  
Denise vd Linde ◽  
Ingrid M.B.H. vd Laar ◽  
Jasper J. Saris ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Type Iii

The VASCERN European Reference Network: An overview

2022 ◽  
pp. 104420
Author(s):  
Guillaume Jondeau ◽  
Julie Hallac ◽  
Marine Hurard ◽  
Karen Daoud ◽  
Natasha Barr ◽  
...  
Keyword(s):  
Reference Network ◽  
European Reference Network

Exome sequencing identifies RASSF1 and KLK3 germline variants in an Iranian multiple-case breast cancer family

2022 ◽  
pp. 104425
Author(s):  
Hoda Radmanesh ◽  
Di Liu ◽  
Robert Geffers ◽  
Fatemeh Homaei Shandiz ◽  
Ariane Sadr-Nabavi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Exome Sequencing ◽  
Breast Cancer Family ◽  
Germline Variants ◽  
Cancer Family ◽  
Multiple Case

scholarly journals A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disability

2022 ◽  
pp. 104423
Author(s):  
Martin Krenn ◽  
Sylvia Kepa ◽  
Gregor Kasprian ◽  
Korbinian M. Riedhammer ◽  
Matias Wagner ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Adult Onset

mRNA analysis revealed a novel pathogenic EIF2S3 variant causing MEHMO syndrome

2022 ◽  
pp. 104421
Author(s):  
Nadezda Ivanova ◽  
Victoria Serzhanova ◽  
Nina Demina ◽  
Darya Guseva ◽  
Mikhail Skoblov
Keyword(s):  
Mrna Analysis

Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects

2022 ◽  
pp. 104426
Author(s):  
Igor E. Orlov ◽  
Tatiana A. Laidus ◽  
Anastasia V. Tumakova ◽  
Grigoriy A. Yanus ◽  
Aglaya G. Iyevleva ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Proof Of Concept ◽  
Sequencing Data ◽  
Concept Study ◽  
Exome Sequencing Data

Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum

2021 ◽  
Vol 64 (12) ◽  
pp. 104345
Author(s):  
Mayank Nilay ◽  
Deepti Saxena ◽  
Kausik Mandal ◽  
Amita Moirangthem ◽  
Shubha R. Phadke
Keyword(s):  
Epidermolysis Bullosa ◽  
Pathogenic Variants
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