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A Micheil Innes

Showing results (61-70 of 156) with videos related to

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American Journal of Medical Genetics. Part A|March 19, 2008
Clinical genetics and the Hutterite population: a review of Mendelian disordersKym M Boycott, Jillian S Parboosingh, Bernie N Chodirker, et al.
Annals of Neurology|May 6, 2003
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16Bernard S Chang, Xianhua Piao, Adria Bodell, et al.
Human Mutation|July 30, 2015
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomaliesCatrina M Loucks, Jillian S Parboosingh, Ranad Shaheen, et al.
Genetics in Medicine Open|December 13, 2024
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican populationTeresa Campbell, Jesse Slone, Hallie Metzger, et al.
American Journal of Medical Genetics. Part A|July 3, 2007
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndromeKym M Boycott, Jillian S Parboosingh, James N Scott, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomaliesMax Krall, Stephanie Htun, Rhonda E Schnur, et al.
Life Science Alliance|March 13, 2019
<i>PISD</i> is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changesTian Zhao, Caitlin M Goedhart, Pingdewinde N Sam, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposisTessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, et al.
American Journal of Medical Genetics. Part A|June 9, 2006
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformationDavid B Everman, Chad T Morgan, Robert Lyle, et al.
American Journal of Medical Genetics. Part A|May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental DelayAlanna Strong, Caoimhe McKenna, Karen Stals, et al.
Pageof 16

Showing results (61-70 of 156) with videos related to

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Pageof 16
American Journal of Medical Genetics. Part A|March 19, 2008
Clinical genetics and the Hutterite population: a review of Mendelian disordersKym M Boycott, Jillian S Parboosingh, Bernie N Chodirker, et al.
Annals of Neurology|May 6, 2003
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16Bernard S Chang, Xianhua Piao, Adria Bodell, et al.
Human Mutation|July 30, 2015
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomaliesCatrina M Loucks, Jillian S Parboosingh, Ranad Shaheen, et al.
Genetics in Medicine Open|December 13, 2024
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican populationTeresa Campbell, Jesse Slone, Hallie Metzger, et al.
American Journal of Medical Genetics. Part A|July 3, 2007
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndromeKym M Boycott, Jillian S Parboosingh, James N Scott, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomaliesMax Krall, Stephanie Htun, Rhonda E Schnur, et al.
Life Science Alliance|March 13, 2019
<i>PISD</i> is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changesTian Zhao, Caitlin M Goedhart, Pingdewinde N Sam, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposisTessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, et al.
American Journal of Medical Genetics. Part A|June 9, 2006
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformationDavid B Everman, Chad T Morgan, Robert Lyle, et al.
American Journal of Medical Genetics. Part A|May 26, 2025
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental DelayAlanna Strong, Caoimhe McKenna, Karen Stals, et al.
Pageof 16