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American Journal of Medical Genetics. Part A
|
June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing
Johanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.
American Journal of Human Genetics
|
December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila
Jonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 18, 2022
Expanding the phenotypic spectrum of ARCN1-related syndrome
Alyssa L Ritter, Jessica Gold, Hiroshi Hayashi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Karin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Karin Weiss, Hayley P Lazar, Alina Kurolap, et al.
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Search research articles
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Showing results (11-20 of 15) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 15 results.
American Journal of Medical Genetics. Part A
|
June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing
Johanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.
American Journal of Human Genetics
|
December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila
Jonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 18, 2022
Expanding the phenotypic spectrum of ARCN1-related syndrome
Alyssa L Ritter, Jessica Gold, Hiroshi Hayashi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Karin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Karin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Page
of 2