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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 14, 2020
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
Shereen G Ghosh, Sangmoon Lee, Rudy Fabunan, et al.
Nature Communications
|
March 24, 2017
Long-acting protein drugs for the treatment of ocular diseases
Joy G Ghosh, Andrew A Nguyen, Chad E Bigelow, et al.
American Journal of Human Genetics
|
August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Shereen G Ghosh, Kerstin Becker, He Huang, et al.
American Journal of Human Genetics
|
November 3, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Shereen G Ghosh, Kerstin Becker, He Huang, et al.
American Journal of Human Genetics
|
December 3, 2021
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Shereen G Ghosh, Kerstin Becker, He Huang, et al.
European Journal of Human Genetics : EJHG
|
September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
Shereen G Ghosh, Marcello Scala, Christian Beetz, et al.
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Search research articles
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Showing results (101-110 of 106) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 106 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 14, 2020
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
Shereen G Ghosh, Sangmoon Lee, Rudy Fabunan, et al.
Nature Communications
|
March 24, 2017
Long-acting protein drugs for the treatment of ocular diseases
Joy G Ghosh, Andrew A Nguyen, Chad E Bigelow, et al.
American Journal of Human Genetics
|
August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Shereen G Ghosh, Kerstin Becker, He Huang, et al.
American Journal of Human Genetics
|
November 3, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Shereen G Ghosh, Kerstin Becker, He Huang, et al.
American Journal of Human Genetics
|
December 3, 2021
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Shereen G Ghosh, Kerstin Becker, He Huang, et al.
European Journal of Human Genetics : EJHG
|
September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
Shereen G Ghosh, Marcello Scala, Christian Beetz, et al.
Page
of 11