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W Brouwer

Showing results (211-220 of 227) with videos related to

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Frontiers in Genetics|May 20, 2020
Exome Sequencing Analysis Identifies Rare Variants in <i>ATM</i> and <i>RPL8</i> That Are Associated With Shorter Telomere LengthAshley van der Spek, Sophie C Warner, Linda Broer, et al.
BMC Medical Genetics|May 1, 2015
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutationsMark Nellist, Rutger W W Brouwer, Christel E M Kockx, et al.
Human Mutation|April 14, 2025
Targeted Genomic Sequencing of <i>TSC1</i> and <i>TSC2</i> Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was NormalHannah D West, Mark Nellist, Rutger W W Brouwer, et al.
Frontiers in Pediatrics|February 21, 2022
Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing ChallengeErwin Brosens, Nina C J Peters, Kim S van Weelden, et al.
Human Molecular Genetics|December 10, 2015
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Robert M W Hofstra, Luca Signorile, et al.
Communications Biology|April 9, 2022
CRISPRs in the human genome are differentially expressed between malignant and normal adjacent to tumor tissueJob van Riet, Chinmoy Saha, Nikolaos Strepis, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 16, 2017
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and miceDanny Halim, Michael P Wilson, Daniel Oliver, et al.
The Journal of Experimental Medicine|June 22, 2016
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndromeMarije E C Meuwissen, Rachel Schot, Sofija Buta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2017
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT studyDiane Van Opstal, Merel C van Maarle, Klaske Lichtenbelt, et al.
Molecular Psychiatry|August 10, 2016
Exome-sequencing in a large population-based study reveals a rare Asn396Ser variant in the LIPG gene associated with depressive symptomsN Amin, O Jovanova, H H H Adams, et al.
Pageof 23

Showing results (211-220 of 227) with videos related to

Sort By:
Pageof 23
Frontiers in Genetics|May 20, 2020
Exome Sequencing Analysis Identifies Rare Variants in <i>ATM</i> and <i>RPL8</i> That Are Associated With Shorter Telomere LengthAshley van der Spek, Sophie C Warner, Linda Broer, et al.
BMC Medical Genetics|May 1, 2015
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutationsMark Nellist, Rutger W W Brouwer, Christel E M Kockx, et al.
Human Mutation|April 14, 2025
Targeted Genomic Sequencing of <i>TSC1</i> and <i>TSC2</i> Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was NormalHannah D West, Mark Nellist, Rutger W W Brouwer, et al.
Frontiers in Pediatrics|February 21, 2022
Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing ChallengeErwin Brosens, Nina C J Peters, Kim S van Weelden, et al.
Human Molecular Genetics|December 10, 2015
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Robert M W Hofstra, Luca Signorile, et al.
Communications Biology|April 9, 2022
CRISPRs in the human genome are differentially expressed between malignant and normal adjacent to tumor tissueJob van Riet, Chinmoy Saha, Nikolaos Strepis, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 16, 2017
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and miceDanny Halim, Michael P Wilson, Daniel Oliver, et al.
The Journal of Experimental Medicine|June 22, 2016
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndromeMarije E C Meuwissen, Rachel Schot, Sofija Buta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2017
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT studyDiane Van Opstal, Merel C van Maarle, Klaske Lichtenbelt, et al.
Molecular Psychiatry|August 10, 2016
Exome-sequencing in a large population-based study reveals a rare Asn396Ser variant in the LIPG gene associated with depressive symptomsN Amin, O Jovanova, H H H Adams, et al.
Pageof 23