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Neurology
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July 8, 2018
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
Karlien Mul, Richard J L F Lemmers, Marjolein Kriek, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 27, 2025
Rare variants in <i>PRKCI</i> cause Van der Woude syndrome and other features of peridermopathy
Kelsey Robinson, Sunil K Singh, Rachel B Walkup, et al.
Cell Reports
|
December 16, 2014
Genomic and functional overlap between somatic and germline chromosomal rearrangements
Sebastiaan van Heesch, Marieke Simonis, Markus J van Roosmalen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 6, 2026
Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation
Nandita Mukhopadhyay, Eleanor E Feingold, Harrison Brand, et al.
Genome Biology
|
March 7, 2017
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
Ryan L Collins, Harrison Brand, Claire E Redin, et al.
Nature Communications
|
September 27, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Arthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
American Journal of Human Genetics
|
June 24, 2020
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios
Madison R Bishop, Kimberly K Diaz Perez, Miranda Sun, et al.
Neuron
|
July 18, 2023
Phenotype and genetic analysis of data collected within the first year of NeuroDev
Patricia Kipkemoi, Heesu Ally Kim, Bjorn Christ, et al.
American Journal of Human Genetics
|
September 3, 2025
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
Kelsey Robinson, Sunil K Singh, Rachel B Walkup, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 4, 2026
Comprehensive analysis of <i>de novo</i> variants across 2,497 orofacial cleft trios reveals novel genetic drivers of disease
Nehir E Kurtas, Alba Sanchis-Juan, Eren Shin, et al.
Page
of 9
Search research articles
Search
Showing results (41-50 of 87) with videos related to
Sort By:
Page
of 9
Neurology
|
July 8, 2018
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
Karlien Mul, Richard J L F Lemmers, Marjolein Kriek, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 27, 2025
Rare variants in <i>PRKCI</i> cause Van der Woude syndrome and other features of peridermopathy
Kelsey Robinson, Sunil K Singh, Rachel B Walkup, et al.
Cell Reports
|
December 16, 2014
Genomic and functional overlap between somatic and germline chromosomal rearrangements
Sebastiaan van Heesch, Marieke Simonis, Markus J van Roosmalen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 6, 2026
Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation
Nandita Mukhopadhyay, Eleanor E Feingold, Harrison Brand, et al.
Genome Biology
|
March 7, 2017
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
Ryan L Collins, Harrison Brand, Claire E Redin, et al.
Nature Communications
|
September 27, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Arthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
American Journal of Human Genetics
|
June 24, 2020
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios
Madison R Bishop, Kimberly K Diaz Perez, Miranda Sun, et al.
Neuron
|
July 18, 2023
Phenotype and genetic analysis of data collected within the first year of NeuroDev
Patricia Kipkemoi, Heesu Ally Kim, Bjorn Christ, et al.
American Journal of Human Genetics
|
September 3, 2025
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
Kelsey Robinson, Sunil K Singh, Rachel B Walkup, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 4, 2026
Comprehensive analysis of <i>de novo</i> variants across 2,497 orofacial cleft trios reveals novel genetic drivers of disease
Nehir E Kurtas, Alba Sanchis-Juan, Eren Shin, et al.
Page
of 9