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American Journal of Medical Genetics. Part A
|
August 18, 2016
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing
Muhammad Imran Naseer, Sameera Sogaty, Mahmood Rasool, et al.
NPJ Genomic Medicine
|
May 3, 2019
Expanding the neurodevelopmental phenotypes of individuals with de novo <i>KMT2A</i> variants
Ada J S Chan, Cheryl Cytrynbaum, Ny Hoang, et al.
European Journal of Human Genetics : EJHG
|
April 1, 2022
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes
Zain Awamleh, Eric Chater-Diehl, Sanaa Choufani, et al.
BMC Medical Genetics
|
November 23, 2012
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
Bridget A Fernandez, Jane S Green, Ford Bursey, et al.
Toxicological Sciences : an Official Journal of the Society of Toxicology
|
May 22, 2016
The Emergence of Systematic Review in Toxicology
Martin L Stephens, Kellyn Betts, Nancy B Beck, et al.
European Journal of Human Genetics : EJHG
|
March 19, 2022
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
Miriam S Reuter, Michael Zech, Maja Hempel, et al.
The Cochrane Database of Systematic Reviews
|
February 20, 2025
Cardiovascular training for fatigue in people with cancer
Carina Wagner, Moritz Ernst, Nora Cryns, et al.
European Journal of Human Genetics : EJHG
|
June 26, 2014
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders
Almundher Al-Maawali, Lucie Dupuis, Susan Blaser, et al.
Leukemia
|
March 9, 2007
Expression and mutation status of candidate kinases in multiple myeloma
J O Claudio, F Zhan, L Zhuang, et al.
Molecular Psychiatry
|
November 26, 2014
The phenotypic manifestations of rare genic CNVs in autism spectrum disorder
A K Merikangas, R Segurado, E A Heron, et al.
Page
of 92
Search research articles
Search
Showing results (581-590 of 915) with videos related to
Sort By:
Page
of 92
American Journal of Medical Genetics. Part A
|
August 18, 2016
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing
Muhammad Imran Naseer, Sameera Sogaty, Mahmood Rasool, et al.
NPJ Genomic Medicine
|
May 3, 2019
Expanding the neurodevelopmental phenotypes of individuals with de novo <i>KMT2A</i> variants
Ada J S Chan, Cheryl Cytrynbaum, Ny Hoang, et al.
European Journal of Human Genetics : EJHG
|
April 1, 2022
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes
Zain Awamleh, Eric Chater-Diehl, Sanaa Choufani, et al.
BMC Medical Genetics
|
November 23, 2012
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
Bridget A Fernandez, Jane S Green, Ford Bursey, et al.
Toxicological Sciences : an Official Journal of the Society of Toxicology
|
May 22, 2016
The Emergence of Systematic Review in Toxicology
Martin L Stephens, Kellyn Betts, Nancy B Beck, et al.
European Journal of Human Genetics : EJHG
|
March 19, 2022
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
Miriam S Reuter, Michael Zech, Maja Hempel, et al.
The Cochrane Database of Systematic Reviews
|
February 20, 2025
Cardiovascular training for fatigue in people with cancer
Carina Wagner, Moritz Ernst, Nora Cryns, et al.
European Journal of Human Genetics : EJHG
|
June 26, 2014
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders
Almundher Al-Maawali, Lucie Dupuis, Susan Blaser, et al.
Leukemia
|
March 9, 2007
Expression and mutation status of candidate kinases in multiple myeloma
J O Claudio, F Zhan, L Zhuang, et al.
Molecular Psychiatry
|
November 26, 2014
The phenotypic manifestations of rare genic CNVs in autism spectrum disorder
A K Merikangas, R Segurado, E A Heron, et al.
Page
of 92