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Joseph Shen

Showing results (11-20 of 19) with videos related to

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Nature Genetics|February 26, 2015
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsyCas Simons, Lachlan D Rash, Joanna Crawford, et al.
American Journal of Human Genetics|May 21, 2019
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic EncephalopathyIngo Helbig, Tania Lopez-Hernandez, Oded Shor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 16, 2013
Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorderDouglas R Stewart, Hilde Brems, Alicia G Gomes, et al.
Neuron|December 27, 2016
Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and NeurodegenerationWan Hee Yoon, Hector Sandoval, Sonal Nagarkar-Jaiswal, et al.
American Heart Journal|December 28, 2025
Dual versus monotherapy with SGLT2 inhibitor and GLP-1 receptor agonist:PRECIDENTD pragmatic randomized trialDeborah J Wexler, Lindsay S Mayberry, Lyndsay A Nelson, et al.
Journal of Medical Genetics|November 17, 2009
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeMarwan Shinawi, Pengfei Liu, Sung-Hae L Kang, et al.
American Journal of Human Genetics|November 9, 2022
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesisChristin S Adamo, Aude Beyens, Alvise Schiavinato, et al.
Nature Genetics|November 26, 2008
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesNicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2026
New genotype-phenotype correlations and management recommendations for individuals with RERE variantsDavid Curtis, Xiaonan Zhao, Nichole M Owen, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Nature Genetics|February 26, 2015
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsyCas Simons, Lachlan D Rash, Joanna Crawford, et al.
American Journal of Human Genetics|May 21, 2019
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic EncephalopathyIngo Helbig, Tania Lopez-Hernandez, Oded Shor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 16, 2013
Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorderDouglas R Stewart, Hilde Brems, Alicia G Gomes, et al.
Neuron|December 27, 2016
Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and NeurodegenerationWan Hee Yoon, Hector Sandoval, Sonal Nagarkar-Jaiswal, et al.
American Heart Journal|December 28, 2025
Dual versus monotherapy with SGLT2 inhibitor and GLP-1 receptor agonist:PRECIDENTD pragmatic randomized trialDeborah J Wexler, Lindsay S Mayberry, Lyndsay A Nelson, et al.
Journal of Medical Genetics|November 17, 2009
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeMarwan Shinawi, Pengfei Liu, Sung-Hae L Kang, et al.
American Journal of Human Genetics|November 9, 2022
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesisChristin S Adamo, Aude Beyens, Alvise Schiavinato, et al.
Nature Genetics|November 26, 2008
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesNicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2026
New genotype-phenotype correlations and management recommendations for individuals with RERE variantsDavid Curtis, Xiaonan Zhao, Nichole M Owen, et al.
Pageof 2