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Orphanet Journal of Rare Diseases
|
March 29, 2014
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
Joe C H Sim, Susan M White, Elizabeth Fitzpatrick, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 28, 2025
Inhaled <i>DNAI1</i> mRNA therapy for treatment of primary ciliary dyskinesia
Mirko Hennig, Rumpa B Bhattacharjee, Ishita Agarwal, et al.
Plos One
|
August 8, 2015
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase
David G Warnock, Daniel G Bichet, Myrl Holida, et al.
Neurology. Genetics
|
May 5, 2018
Somatic <i>GNAQ</i> mutation in the <i>forme fruste</i> of Sturge-Weber syndrome
Michael S Hildebrand, A Simon Harvey, Stephen Malone, et al.
Annals of Clinical and Translational Neurology
|
May 23, 2015
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
Thomas Scerri, Jessica R Riseley, Greta Gillies, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 23, 2016
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
Elfrida R Benjamin, Maria Cecilia Della Valle, Xiaoyang Wu, et al.
European Heart Journal
|
April 24, 2016
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy
Dean G Phelan, David J Anderson, Sara E Howden, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 16, 2004
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
Sarah Furtado, Haydeh Payami, Paul J Lockhart, et al.
Annals of Neurology
|
August 19, 2015
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
Joe C Sim, Thomas Scerri, Miriam Fanjul-Fernández, et al.
Elife
|
April 19, 2021
DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation
Laura Morcom, Ilan Gobius, Ashley Pl Marsh, et al.
Page
of 46
Search research articles
Search
Showing results (381-390 of 454) with videos related to
Sort By:
Page
of 46
Orphanet Journal of Rare Diseases
|
March 29, 2014
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
Joe C H Sim, Susan M White, Elizabeth Fitzpatrick, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 28, 2025
Inhaled <i>DNAI1</i> mRNA therapy for treatment of primary ciliary dyskinesia
Mirko Hennig, Rumpa B Bhattacharjee, Ishita Agarwal, et al.
Plos One
|
August 8, 2015
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase
David G Warnock, Daniel G Bichet, Myrl Holida, et al.
Neurology. Genetics
|
May 5, 2018
Somatic <i>GNAQ</i> mutation in the <i>forme fruste</i> of Sturge-Weber syndrome
Michael S Hildebrand, A Simon Harvey, Stephen Malone, et al.
Annals of Clinical and Translational Neurology
|
May 23, 2015
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
Thomas Scerri, Jessica R Riseley, Greta Gillies, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 23, 2016
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
Elfrida R Benjamin, Maria Cecilia Della Valle, Xiaoyang Wu, et al.
European Heart Journal
|
April 24, 2016
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy
Dean G Phelan, David J Anderson, Sara E Howden, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 16, 2004
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
Sarah Furtado, Haydeh Payami, Paul J Lockhart, et al.
Annals of Neurology
|
August 19, 2015
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
Joe C Sim, Thomas Scerri, Miriam Fanjul-Fernández, et al.
Elife
|
April 19, 2021
DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation
Laura Morcom, Ilan Gobius, Ashley Pl Marsh, et al.
Page
of 46