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Molecular Biology of the Cell
|
August 2, 2013
Nuclear-localized Asunder regulates cytoplasmic dynein localization via its role in the integrator complex
Jeanne N Jodoin, Poojitha Sitaram, Todd R Albrecht, et al.
The British Journal of Dermatology
|
February 10, 2023
A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings
Mingfeng Li, Kenneth Lay, Andreas Zimmer, et al.
BMC Medical Genetics
|
July 26, 2018
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly
Dineshani Hettiaracchchi, Carine Bonnard, S M A Jayawardana, et al.
The Journal of Biological Chemistry
|
May 12, 2018
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function
Alexandra D Gurzau, Kelan Chen, Shifeng Xue, et al.
American Journal of Medical Genetics. Part A
|
July 21, 2015
Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3
Ariana Kariminejad, Shahriar Nafissi, Yalda Nilipoor, et al.
Human Molecular Genetics
|
February 26, 2015
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects
Calista K L Ng, Mohammad Shboul, Valerio Taverniti, et al.
Nature Genetics
|
May 15, 2012
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1
Carine Bonnard, Anna C Strobl, Mohammad Shboul, et al.
Clinical Genetics
|
March 1, 2020
A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote
Ariana Kariminejad, Siavash Ghaderi-Sohi, Elham Keshavarz, et al.
Stem Cell Reports
|
February 5, 2022
Leveraging interacting signaling pathways to robustly improve the quality and yield of human pluripotent stem cell-derived hepatoblasts and hepatocytes
Claudia Raggi, Marie-Agnès M'Callum, Quang Toan Pham, et al.
Neurology. Genetics
|
August 13, 2019
Novel mutation in <i>HTRA1</i> in a family with diffuse white matter lesions and inflammatory features
Amin Ziaei, Xiaohong Xu, Leila Dehghani, et al.
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Search research articles
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Showing results (31-40 of 134) with videos related to
Sort By:
Page
of 14
Molecular Biology of the Cell
|
August 2, 2013
Nuclear-localized Asunder regulates cytoplasmic dynein localization via its role in the integrator complex
Jeanne N Jodoin, Poojitha Sitaram, Todd R Albrecht, et al.
The British Journal of Dermatology
|
February 10, 2023
A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings
Mingfeng Li, Kenneth Lay, Andreas Zimmer, et al.
BMC Medical Genetics
|
July 26, 2018
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly
Dineshani Hettiaracchchi, Carine Bonnard, S M A Jayawardana, et al.
The Journal of Biological Chemistry
|
May 12, 2018
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function
Alexandra D Gurzau, Kelan Chen, Shifeng Xue, et al.
American Journal of Medical Genetics. Part A
|
July 21, 2015
Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3
Ariana Kariminejad, Shahriar Nafissi, Yalda Nilipoor, et al.
Human Molecular Genetics
|
February 26, 2015
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects
Calista K L Ng, Mohammad Shboul, Valerio Taverniti, et al.
Nature Genetics
|
May 15, 2012
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1
Carine Bonnard, Anna C Strobl, Mohammad Shboul, et al.
Clinical Genetics
|
March 1, 2020
A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote
Ariana Kariminejad, Siavash Ghaderi-Sohi, Elham Keshavarz, et al.
Stem Cell Reports
|
February 5, 2022
Leveraging interacting signaling pathways to robustly improve the quality and yield of human pluripotent stem cell-derived hepatoblasts and hepatocytes
Claudia Raggi, Marie-Agnès M'Callum, Quang Toan Pham, et al.
Neurology. Genetics
|
August 13, 2019
Novel mutation in <i>HTRA1</i> in a family with diffuse white matter lesions and inflammatory features
Amin Ziaei, Xiaohong Xu, Leila Dehghani, et al.
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of 14