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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 17, 2004
Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study
K G Monaghan, W E Highsmith, J Amos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 1, 2021
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)
Lora J H Bean, Maren T Scheuner, Michael F Murray, et al.
Journal of Medical Genetics
|
July 18, 2015
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy
Wendy K Chung, Kimberly Martin, Chaim Jalas, et al.
Clinical Genetics
|
September 7, 2016
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features
J S Cohen, S Srivastava, K D Farwell Hagman, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
May 20, 2026
Dual Knockout Models of the Spatially and Functionally Conserved rgra and rgrb Zebrafish Genes Reveal the Requirement of RGR for the Integrity of Cone-Mediated Photopic Vision, the Photopic Visual Cycle and Bruch's Membrane Morphology
Grace Ruddin, Tess McCann, Joanna J Kaylor, et al.
Archives of Pathology & Laboratory Medicine
|
November 25, 2003
Bioelectronic sensor technology for detection of cystic fibrosis and hereditary hemochromatosis mutations
Susan H Bernacki, Daniel H Farkas, Wenmei Shi, et al.
Cold Spring Harbor Molecular Case Studies
|
May 6, 2016
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features
Akemi J Tanaka, Megan T Cho, Kyle Retterer, et al.
HGG Advances
|
January 20, 2022
A recurrent, <i>de novo</i> pathogenic variant in <i>ARPC4</i> disrupts actin filament formation and causes microcephaly and speech delay
Dianne Laboy Cintron, Alison M Muir, Abbey Scott, et al.
American Journal of Human Genetics
|
June 4, 2016
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
Lia Boyle, Mirjam M C Wamelink, Gajja S Salomons, et al.
Clinical Genetics
|
July 26, 2023
Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome
Newell Belnap, Aiai Price-Smith, Keri Ramsey, et al.
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of 23
Search research articles
Search
Showing results (141-150 of 229) with videos related to
Sort By:
Page
of 23
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 17, 2004
Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study
K G Monaghan, W E Highsmith, J Amos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 1, 2021
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)
Lora J H Bean, Maren T Scheuner, Michael F Murray, et al.
Journal of Medical Genetics
|
July 18, 2015
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy
Wendy K Chung, Kimberly Martin, Chaim Jalas, et al.
Clinical Genetics
|
September 7, 2016
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features
J S Cohen, S Srivastava, K D Farwell Hagman, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
May 20, 2026
Dual Knockout Models of the Spatially and Functionally Conserved rgra and rgrb Zebrafish Genes Reveal the Requirement of RGR for the Integrity of Cone-Mediated Photopic Vision, the Photopic Visual Cycle and Bruch's Membrane Morphology
Grace Ruddin, Tess McCann, Joanna J Kaylor, et al.
Archives of Pathology & Laboratory Medicine
|
November 25, 2003
Bioelectronic sensor technology for detection of cystic fibrosis and hereditary hemochromatosis mutations
Susan H Bernacki, Daniel H Farkas, Wenmei Shi, et al.
Cold Spring Harbor Molecular Case Studies
|
May 6, 2016
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features
Akemi J Tanaka, Megan T Cho, Kyle Retterer, et al.
HGG Advances
|
January 20, 2022
A recurrent, <i>de novo</i> pathogenic variant in <i>ARPC4</i> disrupts actin filament formation and causes microcephaly and speech delay
Dianne Laboy Cintron, Alison M Muir, Abbey Scott, et al.
American Journal of Human Genetics
|
June 4, 2016
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
Lia Boyle, Mirjam M C Wamelink, Gajja S Salomons, et al.
Clinical Genetics
|
July 26, 2023
Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome
Newell Belnap, Aiai Price-Smith, Keri Ramsey, et al.
Page
of 23