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American Journal of Medical Genetics. Part A
|
September 13, 2019
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome
Carolina Courage, Christopher B Jackson, Marta Owczarek-Lipska, et al.
European Journal of Endocrinology
|
November 8, 2018
A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation
Denise Rockstroh, Heike Pfäffle, Diana Le Duc, et al.
European Psychiatry : the Journal of the Association of European Psychiatrists
|
January 12, 2005
Suicide attempts in schizophrenia and affective disorders with relation to some specific demographical and clinical characteristics
Daniel J Müller, Katrin Barkow, Svetlana Kovalenko, et al.
Molecular Syndromology
|
October 27, 2016
Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in <i>SCN2A</i>
Steffen Syrbe, Boris S Zhorov, Astrid Bertsche, et al.
Annals of Neurology
|
May 10, 2018
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy
Paolo Ambrosino, Maria Virginia Soldovieri, Thomas Bast, et al.
European Journal of Human Genetics : EJHG
|
December 15, 2020
In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas
Diana Le Duc, Julia Hentschel, Sonja Neuser, et al.
Brain : a Journal of Neurology
|
August 29, 2022
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
Tobias Brünger, Eduardo Pérez-Palma, Ludovica Montanucci, et al.
Journal of Occupational and Environmental Medicine
|
October 14, 2015
Factors Associated With Truck Crashes in a Large Cross Section of Commercial Motor Vehicle Drivers
Matthew S Thiese, Ulrike Ott, Riann Robbins, et al.
The Journal of Sexual Medicine
|
May 10, 2008
Prolactin, subjective well-being and sexual dysfunction: an open label observational study comparing quetiapine with risperidone
Jens Westheide, Gabriele Cvetanovska, Carsten Albrecht, et al.
BMC Genomics
|
November 8, 2021
Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies
Akhil Velluva, Maximillian Radtke, Susanne Horn, et al.
Page
of 35
Search research articles
Search
Showing results (181-190 of 342) with videos related to
Sort By:
Page
of 35
American Journal of Medical Genetics. Part A
|
September 13, 2019
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome
Carolina Courage, Christopher B Jackson, Marta Owczarek-Lipska, et al.
European Journal of Endocrinology
|
November 8, 2018
A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation
Denise Rockstroh, Heike Pfäffle, Diana Le Duc, et al.
European Psychiatry : the Journal of the Association of European Psychiatrists
|
January 12, 2005
Suicide attempts in schizophrenia and affective disorders with relation to some specific demographical and clinical characteristics
Daniel J Müller, Katrin Barkow, Svetlana Kovalenko, et al.
Molecular Syndromology
|
October 27, 2016
Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in <i>SCN2A</i>
Steffen Syrbe, Boris S Zhorov, Astrid Bertsche, et al.
Annals of Neurology
|
May 10, 2018
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy
Paolo Ambrosino, Maria Virginia Soldovieri, Thomas Bast, et al.
European Journal of Human Genetics : EJHG
|
December 15, 2020
In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas
Diana Le Duc, Julia Hentschel, Sonja Neuser, et al.
Brain : a Journal of Neurology
|
August 29, 2022
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
Tobias Brünger, Eduardo Pérez-Palma, Ludovica Montanucci, et al.
Journal of Occupational and Environmental Medicine
|
October 14, 2015
Factors Associated With Truck Crashes in a Large Cross Section of Commercial Motor Vehicle Drivers
Matthew S Thiese, Ulrike Ott, Riann Robbins, et al.
The Journal of Sexual Medicine
|
May 10, 2008
Prolactin, subjective well-being and sexual dysfunction: an open label observational study comparing quetiapine with risperidone
Jens Westheide, Gabriele Cvetanovska, Carsten Albrecht, et al.
BMC Genomics
|
November 8, 2021
Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies
Akhil Velluva, Maximillian Radtke, Susanne Horn, et al.
Page
of 35