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Showing results (721-730 of 737) with videos related to

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Electronic Physician|December 15, 2017
Gastroesophageal reflux disease among population of Arar City, Northern Saudi ArabiaAnwar Matar Alsulobi, Nagah Mohamed Abo El-Fetoh, Sara Ghazi Eid Alenezi, et al.
Journal of Medical Genetics|July 29, 2021
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsyMichal Yechieli, Suleyman Gulsuner, Hilla Ben-Pazi, et al.
Neurology. Genetics|March 27, 2018
<i>ACO2</i> homozygous missense mutation associated with complicated hereditary spastic paraplegiaChristian G Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, et al.
Annals of the New York Academy of Sciences|August 29, 2018
Thiamine deficiency disorders: diagnosis, prevalence, and a roadmap for global control programsKyly C Whitfield, Megan W Bourassa, Bola Adamolekun, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|November 20, 2024
Spectrum of Clinical and Imaging Features of Children With GFAP AstrocytopathySimon Sommer, Andreas Panzer, Annikki Bertolini, et al.
Frontiers in Genetics|March 31, 2023
Hereditary orotic aciduria identified by newborn screeningOrna Staretz-Chacham, Nadirah S Damseh, Suha Daas, et al.
Journal of Inherited Metabolic Disease|September 25, 2024
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newbornsRachel Rock, Oded Rock, Suha Daas, et al.
American Journal of Human Genetics|September 27, 2016
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative EncephalopathyNoriko Miyake, Ryoko Fukai, Chihiro Ohba, et al.
Journal of Inherited Metabolic Disease|December 14, 2022
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemiaSuha Daas, Nasser Abu Salah, Yair Anikster, et al.
American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
Pageof 74

Showing results (721-730 of 737) with videos related to

Sort By:
Pageof 74
Electronic Physician|December 15, 2017
Gastroesophageal reflux disease among population of Arar City, Northern Saudi ArabiaAnwar Matar Alsulobi, Nagah Mohamed Abo El-Fetoh, Sara Ghazi Eid Alenezi, et al.
Journal of Medical Genetics|July 29, 2021
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsyMichal Yechieli, Suleyman Gulsuner, Hilla Ben-Pazi, et al.
Neurology. Genetics|March 27, 2018
<i>ACO2</i> homozygous missense mutation associated with complicated hereditary spastic paraplegiaChristian G Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, et al.
Annals of the New York Academy of Sciences|August 29, 2018
Thiamine deficiency disorders: diagnosis, prevalence, and a roadmap for global control programsKyly C Whitfield, Megan W Bourassa, Bola Adamolekun, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|November 20, 2024
Spectrum of Clinical and Imaging Features of Children With GFAP AstrocytopathySimon Sommer, Andreas Panzer, Annikki Bertolini, et al.
Frontiers in Genetics|March 31, 2023
Hereditary orotic aciduria identified by newborn screeningOrna Staretz-Chacham, Nadirah S Damseh, Suha Daas, et al.
Journal of Inherited Metabolic Disease|September 25, 2024
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newbornsRachel Rock, Oded Rock, Suha Daas, et al.
American Journal of Human Genetics|September 27, 2016
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative EncephalopathyNoriko Miyake, Ryoko Fukai, Chihiro Ohba, et al.
Journal of Inherited Metabolic Disease|December 14, 2022
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemiaSuha Daas, Nasser Abu Salah, Yair Anikster, et al.
American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
Pageof 74