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Human Genetics
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September 1, 2018
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
Regie Lyn P Santos-Cortez, Valeed Khan, Falak Sher Khan, et al.
Journal of Human Genetics
|
May 22, 2023
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
Memoona Ramzan, Duygu Duman, LeShon Chere Peart Hendricks, et al.
Molecular Medicine (Cambridge, Mass.)
|
November 22, 2025
Deletion of fibro-adipogenic progenitors-specific follistatin impairs muscle function and accelerates skeletal muscle atrophy in obese mice
Muhammad Rahil Aslam, Muhammad Bilal, Allah Nawaz, et al.
Respiratory Research
|
March 29, 2022
Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension
Christina A Eichstaedt, Zoe Saßmannshausen, Memoona Shaukat, et al.
Brain : a Journal of Neurology
|
March 30, 2026
Clinical and biochemical characterization of amyotrophic lateral sclerosis in a CHCHD10 R15L family
Justin Y Kwan, Christian I Lantz, Vlad A Korobeynikov, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 3, 2025
Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L family
Justin Y Kwan, Christian I Lantz, Vlad A Korobeynikov, et al.
Scientific Reports
|
May 5, 2026
Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan
Memoona Ramzan, Hafiza Idrees, Hina Khan, et al.
The Journal of Clinical Investigation
|
September 30, 2025
Carboxypeptidase D deficiency causes hearing loss amenable to treatment
Memoona Ramzan, Natalie Ortiz-Vega, Mohammad Faraz Zafeer, et al.
Brain : a Journal of Neurology
|
April 22, 2026
Machine learning model based on plasma proteomics for the identification of Parkinson's disease
Boluwatife Adewale, Ruth Chia, Ruin Moaddel, et al.
Nature Medicine
|
August 19, 2025
A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosis
Ruth Chia, Ruin Moaddel, Justin Y Kwan, et al.
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of 25
Search research articles
Search
Showing results (231-240 of 241) with videos related to
Sort By:
Page
of 25
Human Genetics
|
September 1, 2018
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
Regie Lyn P Santos-Cortez, Valeed Khan, Falak Sher Khan, et al.
Journal of Human Genetics
|
May 22, 2023
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
Memoona Ramzan, Duygu Duman, LeShon Chere Peart Hendricks, et al.
Molecular Medicine (Cambridge, Mass.)
|
November 22, 2025
Deletion of fibro-adipogenic progenitors-specific follistatin impairs muscle function and accelerates skeletal muscle atrophy in obese mice
Muhammad Rahil Aslam, Muhammad Bilal, Allah Nawaz, et al.
Respiratory Research
|
March 29, 2022
Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension
Christina A Eichstaedt, Zoe Saßmannshausen, Memoona Shaukat, et al.
Brain : a Journal of Neurology
|
March 30, 2026
Clinical and biochemical characterization of amyotrophic lateral sclerosis in a CHCHD10 R15L family
Justin Y Kwan, Christian I Lantz, Vlad A Korobeynikov, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 3, 2025
Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L family
Justin Y Kwan, Christian I Lantz, Vlad A Korobeynikov, et al.
Scientific Reports
|
May 5, 2026
Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan
Memoona Ramzan, Hafiza Idrees, Hina Khan, et al.
The Journal of Clinical Investigation
|
September 30, 2025
Carboxypeptidase D deficiency causes hearing loss amenable to treatment
Memoona Ramzan, Natalie Ortiz-Vega, Mohammad Faraz Zafeer, et al.
Brain : a Journal of Neurology
|
April 22, 2026
Machine learning model based on plasma proteomics for the identification of Parkinson's disease
Boluwatife Adewale, Ruth Chia, Ruin Moaddel, et al.
Nature Medicine
|
August 19, 2025
A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosis
Ruth Chia, Ruin Moaddel, Justin Y Kwan, et al.
Page
of 25