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European Journal of Human Genetics : EJHG
|
October 28, 2021
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum
Ange-Line Bruel, Antonio Vitobello, Isabelle Thiffault, et al.
BMC Pediatrics
|
July 11, 2018
The BabySeq project: implementing genomic sequencing in newborns
Ingrid A Holm, Pankaj B Agrawal, Ozge Ceyhan-Birsoy, et al.
Human Molecular Genetics
|
October 19, 2020
De novo variants in MPP5 cause global developmental delay and behavioral changes
Noelle Sterling, Anna R Duncan, Raehee Park, et al.
The Journal of Pediatrics
|
November 27, 2024
SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome
Mary P Mullen, D Dunbar Ivy, Nidhy P Varghese, et al.
Molecular Genetics and Metabolism Reports
|
June 21, 2018
<i>De novo ATP1A3</i> and compound heterozygous <i>NLRP3</i> mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome
Alcy Torres, Catherine A Brownstein, Sahil K Tembulkar, et al.
Med (New York, N.Y.)
|
February 28, 2025
A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy
John C Kennedy, Sara O Vargas, Martha P Fishman, et al.
Human Mutation
|
January 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
Yoel Gofin, Tianyun Wang, Madelyn A Gillentine, et al.
Genome Medicine
|
October 14, 2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
Francisco M De La Vega, Shimul Chowdhury, Barry Moore, et al.
HGG Advances
|
June 14, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti
Monica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
Research Square
|
February 20, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti
Monica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
Page
of 36
Search research articles
Search
Showing results (311-320 of 360) with videos related to
Sort By:
Page
of 36
European Journal of Human Genetics : EJHG
|
October 28, 2021
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum
Ange-Line Bruel, Antonio Vitobello, Isabelle Thiffault, et al.
BMC Pediatrics
|
July 11, 2018
The BabySeq project: implementing genomic sequencing in newborns
Ingrid A Holm, Pankaj B Agrawal, Ozge Ceyhan-Birsoy, et al.
Human Molecular Genetics
|
October 19, 2020
De novo variants in MPP5 cause global developmental delay and behavioral changes
Noelle Sterling, Anna R Duncan, Raehee Park, et al.
The Journal of Pediatrics
|
November 27, 2024
SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome
Mary P Mullen, D Dunbar Ivy, Nidhy P Varghese, et al.
Molecular Genetics and Metabolism Reports
|
June 21, 2018
<i>De novo ATP1A3</i> and compound heterozygous <i>NLRP3</i> mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome
Alcy Torres, Catherine A Brownstein, Sahil K Tembulkar, et al.
Med (New York, N.Y.)
|
February 28, 2025
A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy
John C Kennedy, Sara O Vargas, Martha P Fishman, et al.
Human Mutation
|
January 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
Yoel Gofin, Tianyun Wang, Madelyn A Gillentine, et al.
Genome Medicine
|
October 14, 2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
Francisco M De La Vega, Shimul Chowdhury, Barry Moore, et al.
HGG Advances
|
June 14, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti
Monica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
Research Square
|
February 20, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti
Monica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
Page
of 36