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Christopher M Grochowski

Showing results (51-60 of 72) with videos related to

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Human Mutation|September 16, 2020
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published casesXimena Montenegro-Garreaud, Adam W Hansen, Michael M Khayat, et al.
Biorxiv : the Preprint Server for Biology|October 24, 2023
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structuresChristopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.
Cell Genomics|June 22, 2024
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder lociChristopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.
American Journal of Medical Genetics. Part A|April 2, 2020
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillationZeynep H Coban-Akdemir, Wu-Lin Charng, Mahshid Azamian, et al.
HGG Advances|August 29, 2022
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variabilityRuizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, et al.
American Journal of Human Genetics|February 1, 2020
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial MetabolismAdam C Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorderReza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, et al.
HGG Advances|May 1, 2023
Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndromeAngad Jolly, Haowei Du, Christelle Borel, et al.
Biological Psychiatry|July 8, 2019
Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase GeneJ Alexander Bodkin, Michael J Coleman, Laura J Godfrey, et al.
American Journal of Human Genetics|October 22, 2019
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum DisordersTadahiro Mitani, Jaya Punetha, Ibrahim Akalin, et al.
Pageof 8

Showing results (51-60 of 72) with videos related to

Sort By:
Pageof 8
Human Mutation|September 16, 2020
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published casesXimena Montenegro-Garreaud, Adam W Hansen, Michael M Khayat, et al.
Biorxiv : the Preprint Server for Biology|October 24, 2023
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structuresChristopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.
Cell Genomics|June 22, 2024
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder lociChristopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.
American Journal of Medical Genetics. Part A|April 2, 2020
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillationZeynep H Coban-Akdemir, Wu-Lin Charng, Mahshid Azamian, et al.
HGG Advances|August 29, 2022
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variabilityRuizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, et al.
American Journal of Human Genetics|February 1, 2020
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial MetabolismAdam C Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorderReza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, et al.
HGG Advances|May 1, 2023
Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndromeAngad Jolly, Haowei Du, Christelle Borel, et al.
Biological Psychiatry|July 8, 2019
Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase GeneJ Alexander Bodkin, Michael J Coleman, Laura J Godfrey, et al.
American Journal of Human Genetics|October 22, 2019
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum DisordersTadahiro Mitani, Jaya Punetha, Ibrahim Akalin, et al.
Pageof 8