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Showing results (1021-1030 of 1,084) with videos related to
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BMC Medical Genomics
|
July 21, 2016
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
Wu-Lin Charng, Ender Karaca, Zeynep Coban Akdemir, et al.
Journal of the American Chemical Society
|
December 16, 2025
Unravelling the Stability Stressors of Atomically Dispersed Fe-N-C Oxygen Reduction Catalysts
Xiaohong Xie, Boyang Li, Pan Xu, et al.
Plos Genetics
|
July 26, 2017
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, et al.
The Lancet. Haematology
|
April 14, 2025
Anti-GPRC5D CAR T-cell therapy as a salvage treatment in patients with progressive multiple myeloma after anti-BCMA CAR T-cell therapy: a single-centre, single-arm, phase 2 trial
Jieyun Xia, Qian Sun, Dian Zhou, et al.
BMC Cancer
|
June 28, 2022
A study protocol of a randomized phase II trial of perioperative chemoimmunotherapy verses perioperative chemoimmunotherapy plus preoperative chemoradiation for locally advanced gastric (G) or gastroesophageal junction (GEJ) adenocarcinoma: the NeoRacing study
Menglong Zhou, Wang Yang, Yan Xuan, et al.
Molecular Autism
|
October 26, 2019
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
Hyung-Goo Kim, Jill A Rosenfeld, Daryl A Scott, et al.
Plos Genetics
|
April 28, 2016
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
Jinglan Zhang, Véronik Lachance, Adam Schaffner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 1, 2025
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies
Monika Weisz-Hubshman, Lindsay C Burrage, Sharayu V Jangam, et al.
Human Molecular Genetics
|
May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
Clinical Genetics
|
March 10, 2023
The prevalence and phenotypic range associated with biallelic PKDCC variants
Alistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, et al.
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of 109
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Showing results (1021-1030 of 1,084) with videos related to
Sort By:
Page
of 109
BMC Medical Genomics
|
July 21, 2016
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
Wu-Lin Charng, Ender Karaca, Zeynep Coban Akdemir, et al.
Journal of the American Chemical Society
|
December 16, 2025
Unravelling the Stability Stressors of Atomically Dispersed Fe-N-C Oxygen Reduction Catalysts
Xiaohong Xie, Boyang Li, Pan Xu, et al.
Plos Genetics
|
July 26, 2017
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, et al.
The Lancet. Haematology
|
April 14, 2025
Anti-GPRC5D CAR T-cell therapy as a salvage treatment in patients with progressive multiple myeloma after anti-BCMA CAR T-cell therapy: a single-centre, single-arm, phase 2 trial
Jieyun Xia, Qian Sun, Dian Zhou, et al.
BMC Cancer
|
June 28, 2022
A study protocol of a randomized phase II trial of perioperative chemoimmunotherapy verses perioperative chemoimmunotherapy plus preoperative chemoradiation for locally advanced gastric (G) or gastroesophageal junction (GEJ) adenocarcinoma: the NeoRacing study
Menglong Zhou, Wang Yang, Yan Xuan, et al.
Molecular Autism
|
October 26, 2019
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
Hyung-Goo Kim, Jill A Rosenfeld, Daryl A Scott, et al.
Plos Genetics
|
April 28, 2016
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
Jinglan Zhang, Véronik Lachance, Adam Schaffner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 1, 2025
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies
Monika Weisz-Hubshman, Lindsay C Burrage, Sharayu V Jangam, et al.
Human Molecular Genetics
|
May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
Clinical Genetics
|
March 10, 2023
The prevalence and phenotypic range associated with biallelic PKDCC variants
Alistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, et al.
Page
of 109