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Frontiers in Immunology
|
November 23, 2020
MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy
Leidy C Merselis, Shirley Y Jiang, Stanley F Nelson, et al.
Molecular Genetics & Genomic Medicine
|
January 24, 2024
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family
Seung Woo Ryu, Ji-Hee Yoon, Dong-Wook Kim, et al.
Archives of Iranian Medicine
|
February 4, 2016
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change
Abbas Tafakhori, Alvin Yu Jin Ng, Sumanty Tohari, et al.
American Journal of Human Genetics
|
April 3, 2012
Exome sequencing identifies PDE4D mutations in acrodysostosis
Hane Lee, John M Graham, David L Rimoin, et al.
Human Genetics
|
November 6, 2024
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans
Vianney Cortés-González, Miguel Rodriguez-Morales, Paris Ataliotis, et al.
Science (New York, N.Y.)
|
August 10, 2013
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function
Takako Yoshida-Moriguchi, Tobias Willer, Mary E Anderson, et al.
Glycobiology
|
February 17, 2018
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features
Hideyuki Takeuchi, Derek Wong, Michael Schneider, et al.
Pediatric Blood & Cancer
|
September 1, 2016
Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation
Laurel Truscott, Joanna Gell, Vivian Y Chang, et al.
European Journal of Medical Genetics
|
July 9, 2017
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1
Anne Slavotinek, Heather Pua, Ugur Hodoglugil, et al.
Frontiers in Genetics
|
June 2, 2022
Novel Missense and Splice Site Mutations in <i>USH2A</i>, <i>CDH23</i>, <i>PCDH15</i>, and <i>ADGRV1</i> Are Associated With Usher Syndrome in Lebanon
Lama Jaffal, Hanane Akhdar, Hawraa Joumaa, et al.
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Search research articles
Search
Showing results (41-50 of 134) with videos related to
Sort By:
Page
of 14
Frontiers in Immunology
|
November 23, 2020
MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy
Leidy C Merselis, Shirley Y Jiang, Stanley F Nelson, et al.
Molecular Genetics & Genomic Medicine
|
January 24, 2024
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family
Seung Woo Ryu, Ji-Hee Yoon, Dong-Wook Kim, et al.
Archives of Iranian Medicine
|
February 4, 2016
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change
Abbas Tafakhori, Alvin Yu Jin Ng, Sumanty Tohari, et al.
American Journal of Human Genetics
|
April 3, 2012
Exome sequencing identifies PDE4D mutations in acrodysostosis
Hane Lee, John M Graham, David L Rimoin, et al.
Human Genetics
|
November 6, 2024
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans
Vianney Cortés-González, Miguel Rodriguez-Morales, Paris Ataliotis, et al.
Science (New York, N.Y.)
|
August 10, 2013
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function
Takako Yoshida-Moriguchi, Tobias Willer, Mary E Anderson, et al.
Glycobiology
|
February 17, 2018
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features
Hideyuki Takeuchi, Derek Wong, Michael Schneider, et al.
Pediatric Blood & Cancer
|
September 1, 2016
Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation
Laurel Truscott, Joanna Gell, Vivian Y Chang, et al.
European Journal of Medical Genetics
|
July 9, 2017
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1
Anne Slavotinek, Heather Pua, Ugur Hodoglugil, et al.
Frontiers in Genetics
|
June 2, 2022
Novel Missense and Splice Site Mutations in <i>USH2A</i>, <i>CDH23</i>, <i>PCDH15</i>, and <i>ADGRV1</i> Are Associated With Usher Syndrome in Lebanon
Lama Jaffal, Hanane Akhdar, Hawraa Joumaa, et al.
Page
of 14