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A Husain

Showing results (501-510 of 511) with videos related to

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JAMA Pediatrics|April 8, 2024
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled TrialOliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, et al.
Annals of the New York Academy of Sciences|March 12, 2026
Gatherings in Esophagology: Innovations and Future Directions in the Diagnosis and Management of Reflux DiseaseJennifer Cable, Robert Giuli, Mark R Fox, et al.
Orphanet Journal of Rare Diseases|October 24, 2022
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry studyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.
American Journal of Human Genetics|July 25, 2020
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaRalf A Husain, Mona Grimmel, Matias Wagner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
American Journal of Human Genetics|September 2, 2022
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|November 6, 2023
The Banff 2022 Kidney Meeting Work Plan: Data-driven refinement of the Banff Classification for renal allograftsCandice Roufosse, Maarten Naesens, Mark Haas, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|March 26, 2026
The Banff 2024 Kidney Meeting Report: Rejection as a spectrum of phenotypes and focus on differential diagnostic reasoningMaarten Naesens, Candice Roufosse, Lynn D Cornell, et al.
American Journal of Human Genetics|October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossElodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
Pageof 52

Showing results (501-510 of 511) with videos related to

Sort By:
Pageof 52
JAMA Pediatrics|April 8, 2024
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled TrialOliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, et al.
Annals of the New York Academy of Sciences|March 12, 2026
Gatherings in Esophagology: Innovations and Future Directions in the Diagnosis and Management of Reflux DiseaseJennifer Cable, Robert Giuli, Mark R Fox, et al.
Orphanet Journal of Rare Diseases|October 24, 2022
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry studyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.
American Journal of Human Genetics|July 25, 2020
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaRalf A Husain, Mona Grimmel, Matias Wagner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
American Journal of Human Genetics|September 2, 2022
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|November 6, 2023
The Banff 2022 Kidney Meeting Work Plan: Data-driven refinement of the Banff Classification for renal allograftsCandice Roufosse, Maarten Naesens, Mark Haas, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|March 26, 2026
The Banff 2024 Kidney Meeting Report: Rejection as a spectrum of phenotypes and focus on differential diagnostic reasoningMaarten Naesens, Candice Roufosse, Lynn D Cornell, et al.
American Journal of Human Genetics|October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossElodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
Pageof 52