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Neurology
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January 13, 2019
Leukoencephalopathy due to variants in <i>GFPT1-</i>associated congenital myasthenic syndrome
Guy Helman, Suvasini Sharma, Joanna Crawford, et al.
American Journal of Medical Genetics. Part A
|
June 7, 2022
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing
Prince Makay, Gerrye Mubungu, Aimée Mupuala, et al.
JIMD Reports
|
April 15, 2018
Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations
C A Stutterd, N J Lake, H Peters, et al.
Clinical Neurology and Neurosurgery
|
March 11, 2025
Delayed diagnosis of ataxia with oculomotor apraxia type 2 in a Peruvian patient, a case report
Leonardo Cruz-Criollo, Wilhelm Dávila-Salazar, Elison Sarapura-Castro, et al.
JCI Insight
|
July 9, 2016
Repurposing tromethamine as inhaled therapy to treat CF airway disease
Mahmoud H Abou Alaiwa, Janice L Launspach, Kelsey A Sheets, et al.
Journal of Child Neurology
|
June 9, 2018
Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis
Alexander Conant, Julian Curiel, Amy Pizzino, et al.
NPJ Genomic Medicine
|
March 28, 2024
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
Vaidehi Jobanputra, Brock Schroeder, Heidi L Rehm, et al.
Plos One
|
February 12, 2011
Glucose depletion in the airway surface liquid is essential for sterility of the airways
Alejandro A Pezzulo, Jeydith Gutiérrez, Kelly S Duschner, et al.
Neurology
|
December 21, 2014
DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder
Nicole I Wolf, Camilo Toro, Ilya Kister, et al.
BMC Medicine
|
March 22, 2026
A culturally-safe primary care intervention for migrant/refugee women suffering domestic violence and abuse: HARMONY-a pragmatic cluster randomised controlled trial
Angela J Taft, Felicity Young, Kelsey L Hegarty, et al.
Page
of 32
Search research articles
Search
Showing results (221-230 of 318) with videos related to
Sort By:
Page
of 32
Neurology
|
January 13, 2019
Leukoencephalopathy due to variants in <i>GFPT1-</i>associated congenital myasthenic syndrome
Guy Helman, Suvasini Sharma, Joanna Crawford, et al.
American Journal of Medical Genetics. Part A
|
June 7, 2022
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing
Prince Makay, Gerrye Mubungu, Aimée Mupuala, et al.
JIMD Reports
|
April 15, 2018
Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations
C A Stutterd, N J Lake, H Peters, et al.
Clinical Neurology and Neurosurgery
|
March 11, 2025
Delayed diagnosis of ataxia with oculomotor apraxia type 2 in a Peruvian patient, a case report
Leonardo Cruz-Criollo, Wilhelm Dávila-Salazar, Elison Sarapura-Castro, et al.
JCI Insight
|
July 9, 2016
Repurposing tromethamine as inhaled therapy to treat CF airway disease
Mahmoud H Abou Alaiwa, Janice L Launspach, Kelsey A Sheets, et al.
Journal of Child Neurology
|
June 9, 2018
Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis
Alexander Conant, Julian Curiel, Amy Pizzino, et al.
NPJ Genomic Medicine
|
March 28, 2024
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
Vaidehi Jobanputra, Brock Schroeder, Heidi L Rehm, et al.
Plos One
|
February 12, 2011
Glucose depletion in the airway surface liquid is essential for sterility of the airways
Alejandro A Pezzulo, Jeydith Gutiérrez, Kelly S Duschner, et al.
Neurology
|
December 21, 2014
DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder
Nicole I Wolf, Camilo Toro, Ilya Kister, et al.
BMC Medicine
|
March 22, 2026
A culturally-safe primary care intervention for migrant/refugee women suffering domestic violence and abuse: HARMONY-a pragmatic cluster randomised controlled trial
Angela J Taft, Felicity Young, Kelsey L Hegarty, et al.
Page
of 32