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Jill Mwenifumbo

Showing results (1-10 of 11) with videos related to

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American Journal of Medical Genetics. Part A|September 9, 2017
FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?Angela Myers, Christèle du Souich, Connie L Yang, et al.
NPJ Genomic Medicine|September 29, 2025
Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaineXiao Li, Mehdi Yeganeh, Graham Sinclair, et al.
Journal of Medical Genetics|June 18, 2020
<i>SETD1B</i>-associated neurodevelopmental disorderAlexandra Roston, Dan Evans, Harinder Gill, et al.
HGG Advances|December 2, 2023
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphismSimran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, et al.
American Journal of Medical Genetics. Part A|December 17, 2019
Renpenning syndrome in a femaleRaymond Y Cho, Maria S Peñaherrera, Christele Du Souich, et al.
Neurogenetics|July 2, 2021
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effectsClara D van Karnebeek, Ingrid Blydt-Hansen, Allison M Matthews, et al.
American Journal of Human Genetics|July 4, 2017
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic EncephalopathyAnna Lehman, Samrat Thouta, Grazia M S Mancini, et al.
Blood|July 5, 2022
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancyMehul Sharma, Maggie P Fu, Henry Y Lu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2018
Atypical cerebral palsy: genomics analysis enables precision medicineAllison M Matthews, Ingrid Blydt-Hansen, Basmah Al-Jabri, et al.
Nature Methods|September 14, 2010
Alternative expression analysis by RNA sequencingMalachi Griffith, Obi L Griffith, Jill Mwenifumbo, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|September 9, 2017
FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?Angela Myers, Christèle du Souich, Connie L Yang, et al.
NPJ Genomic Medicine|September 29, 2025
Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaineXiao Li, Mehdi Yeganeh, Graham Sinclair, et al.
Journal of Medical Genetics|June 18, 2020
<i>SETD1B</i>-associated neurodevelopmental disorderAlexandra Roston, Dan Evans, Harinder Gill, et al.
HGG Advances|December 2, 2023
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphismSimran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, et al.
American Journal of Medical Genetics. Part A|December 17, 2019
Renpenning syndrome in a femaleRaymond Y Cho, Maria S Peñaherrera, Christele Du Souich, et al.
Neurogenetics|July 2, 2021
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effectsClara D van Karnebeek, Ingrid Blydt-Hansen, Allison M Matthews, et al.
American Journal of Human Genetics|July 4, 2017
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic EncephalopathyAnna Lehman, Samrat Thouta, Grazia M S Mancini, et al.
Blood|July 5, 2022
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancyMehul Sharma, Maggie P Fu, Henry Y Lu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2018
Atypical cerebral palsy: genomics analysis enables precision medicineAllison M Matthews, Ingrid Blydt-Hansen, Basmah Al-Jabri, et al.
Nature Methods|September 14, 2010
Alternative expression analysis by RNA sequencingMalachi Griffith, Obi L Griffith, Jill Mwenifumbo, et al.
Pageof 2