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David R FitzPatrick

Showing results (61-70 of 144) with videos related to

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American Journal of Medical Genetics. Part A|September 25, 2014
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypesCharlotte Snijders Blok, Nicole Corsten-Janssen, David R FitzPatrick, et al.
American Journal of Human Genetics|October 9, 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disordersEugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, et al.
Journal of Pediatric Genetics|August 9, 2020
Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2Siulan Vendramini-Pittoli, Rosana Maria Candido-Souza, Rodrigo Gonçalves Quiezi, et al.
Plos Genetics|December 19, 2013
A trans-acting protein effect causes severe eye malformation in the Mp mouseJoe Rainger, Margaret Keighren, Douglas R Keene, et al.
Genes|October 27, 2022
Robust Genetic Analysis of the X-Linked Anophthalmic (<i>Ie</i>) MouseBrianda A Hernandez-Moran, Andrew S Papanastasiou, David Parry, et al.
European Journal of Medical Genetics|September 8, 2014
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAXMorad Ansari, Jacqueline K Rainger, Jennie E Murray, et al.
Nature Genetics|January 31, 2018
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndromeGabrielle Olley, Morad Ansari, Hemant Bengani, et al.
Nature Genetics|February 15, 2018
Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndromeGabrielle Olley, Morad Ansari, Hemant Bengani, et al.
American Journal of Medical Genetics. Part A|June 17, 2015
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disabilityMichael J Parker, Alan E Fryer, Deborah J Shears, et al.
Human Mutation|May 12, 2017
A recurrent de novo mutation in ACTG1 causes isolated ocular colobomaJoe Rainger, Kathleen A Williamson, Dinesh C Soares, et al.
Pageof 15

Showing results (61-70 of 144) with videos related to

Sort By:
Pageof 15
American Journal of Medical Genetics. Part A|September 25, 2014
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypesCharlotte Snijders Blok, Nicole Corsten-Janssen, David R FitzPatrick, et al.
American Journal of Human Genetics|October 9, 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disordersEugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, et al.
Journal of Pediatric Genetics|August 9, 2020
Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2Siulan Vendramini-Pittoli, Rosana Maria Candido-Souza, Rodrigo Gonçalves Quiezi, et al.
Plos Genetics|December 19, 2013
A trans-acting protein effect causes severe eye malformation in the Mp mouseJoe Rainger, Margaret Keighren, Douglas R Keene, et al.
Genes|October 27, 2022
Robust Genetic Analysis of the X-Linked Anophthalmic (<i>Ie</i>) MouseBrianda A Hernandez-Moran, Andrew S Papanastasiou, David Parry, et al.
European Journal of Medical Genetics|September 8, 2014
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAXMorad Ansari, Jacqueline K Rainger, Jennie E Murray, et al.
Nature Genetics|January 31, 2018
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndromeGabrielle Olley, Morad Ansari, Hemant Bengani, et al.
Nature Genetics|February 15, 2018
Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndromeGabrielle Olley, Morad Ansari, Hemant Bengani, et al.
American Journal of Medical Genetics. Part A|June 17, 2015
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disabilityMichael J Parker, Alan E Fryer, Deborah J Shears, et al.
Human Mutation|May 12, 2017
A recurrent de novo mutation in ACTG1 causes isolated ocular colobomaJoe Rainger, Kathleen A Williamson, Dinesh C Soares, et al.
Pageof 15