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Molecular Genetics and Metabolism Reports
|
November 25, 2014
Lysinuric Protein Intolerance Presenting with Multiple Fractures
Jennifer E Posey, Lindsay C Burrage, Marcus J Miller, et al.
Human Mutation
|
November 10, 2015
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation
Shen Gu, Jennifer E Posey, Bo Yuan, et al.
Clinical Genetics
|
May 9, 2023
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits
Hasnaa M Elbendary, Dana Marafi, Ahmed K Saad, et al.
American Journal of Human Genetics
|
June 15, 2021
Exome variant discrepancies due to reference-genome differences
He Li, Moez Dawood, Michael M Khayat, et al.
Neurology. Genetics
|
May 12, 2021
Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy
Daniel G Calame, Jawid Fatih, Isabella Herman, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Enriching for Answers in Rare Diseases
Yilei Fu, Adam C English, Luis F Paulin, et al.
Pediatric Diabetes
|
August 13, 2021
Exome sequencing in children with clinically suspected maturity-onset diabetes of the young
Mustafa Tosur, Claudia Soler-Alfonso, Katie M Chan, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2019
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
Ender Karaca, Jennifer E Posey, Bret Bostwick, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2021
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant
Ahmed K Saad, Dana Marafi, Tadahiro Mitani, et al.
American Journal of Medical Genetics. Part A
|
June 25, 2022
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, et al.
Page
of 20
Search research articles
Search
Showing results (31-40 of 195) with videos related to
Sort By:
Page
of 20
Molecular Genetics and Metabolism Reports
|
November 25, 2014
Lysinuric Protein Intolerance Presenting with Multiple Fractures
Jennifer E Posey, Lindsay C Burrage, Marcus J Miller, et al.
Human Mutation
|
November 10, 2015
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation
Shen Gu, Jennifer E Posey, Bo Yuan, et al.
Clinical Genetics
|
May 9, 2023
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits
Hasnaa M Elbendary, Dana Marafi, Ahmed K Saad, et al.
American Journal of Human Genetics
|
June 15, 2021
Exome variant discrepancies due to reference-genome differences
He Li, Moez Dawood, Michael M Khayat, et al.
Neurology. Genetics
|
May 12, 2021
Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy
Daniel G Calame, Jawid Fatih, Isabella Herman, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Enriching for Answers in Rare Diseases
Yilei Fu, Adam C English, Luis F Paulin, et al.
Pediatric Diabetes
|
August 13, 2021
Exome sequencing in children with clinically suspected maturity-onset diabetes of the young
Mustafa Tosur, Claudia Soler-Alfonso, Katie M Chan, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2019
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
Ender Karaca, Jennifer E Posey, Bret Bostwick, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2021
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant
Ahmed K Saad, Dana Marafi, Tadahiro Mitani, et al.
American Journal of Medical Genetics. Part A
|
June 25, 2022
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, et al.
Page
of 20