Search research articles
Contact Us
Filters
Showing results (1-10 of 13) with videos related to
Page
of 2
Sort By:
Harefuah
|
July 7, 2000
[Marfan's syndrome]
S Shinawi, H Mandel
Journal of Human Genetics
|
January 31, 2021
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients
Parith Wongkittichote, Daniel J Wegner, Marwan S Shinawi
Neurology
|
November 15, 2024
Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency: Stable Visual and Neurologic Status With Continued Riboflavin Therapy
Marisa A O'Brien, Susan M Culican, Marwan S Shinawi, et al.
Clinical Genetics
|
September 29, 2025
RAD51-Related Fanconi Anemia: Expanding the Phenotypic Spectrum and Strong Association With VACTERL
Burak Altintas, Andrea Stacy, Katie Gettinger, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association
|
July 30, 2010
Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy
H Mendez-Figueroa, O A Shchelochkov, A Shaibani, et al.
Journal of Occupational and Environmental Medicine
|
November 30, 2018
Birth Defects Among 788 Children Born to Gulf War Veterans Based on Physical Examination
Marwan S Shinawi, Renee Alpern, Rosemary Toomey, et al.
JAMA Otolaryngology-- Head & Neck Surgery
|
November 11, 2016
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome
Andre Wineland, Maithilee D Menezes, Joshua S Shimony, et al.
British Journal of Haematology
|
March 25, 2023
Hyperammonemia and acute liver failure associated with deferasirox in two adolescents with sickle cell disease
Alison S Towerman, Kristin P Guilliams, Réjean Guerriero, et al.
Neurology. Genetics
|
May 12, 2021
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
Annelise Y Mah-Som, Cristina Skrypnyk, Andrea Guerin, et al.
Clinical Genetics
|
October 17, 2022
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord
Parith Wongkittichote, Tae-Ik Choi, Oc-Hee Kim, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 13) with videos related to
Sort By:
Page
of 2
Harefuah
|
July 7, 2000
[Marfan's syndrome]
S Shinawi, H Mandel
Journal of Human Genetics
|
January 31, 2021
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients
Parith Wongkittichote, Daniel J Wegner, Marwan S Shinawi
Neurology
|
November 15, 2024
Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency: Stable Visual and Neurologic Status With Continued Riboflavin Therapy
Marisa A O'Brien, Susan M Culican, Marwan S Shinawi, et al.
Clinical Genetics
|
September 29, 2025
RAD51-Related Fanconi Anemia: Expanding the Phenotypic Spectrum and Strong Association With VACTERL
Burak Altintas, Andrea Stacy, Katie Gettinger, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association
|
July 30, 2010
Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy
H Mendez-Figueroa, O A Shchelochkov, A Shaibani, et al.
Journal of Occupational and Environmental Medicine
|
November 30, 2018
Birth Defects Among 788 Children Born to Gulf War Veterans Based on Physical Examination
Marwan S Shinawi, Renee Alpern, Rosemary Toomey, et al.
JAMA Otolaryngology-- Head & Neck Surgery
|
November 11, 2016
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome
Andre Wineland, Maithilee D Menezes, Joshua S Shimony, et al.
British Journal of Haematology
|
March 25, 2023
Hyperammonemia and acute liver failure associated with deferasirox in two adolescents with sickle cell disease
Alison S Towerman, Kristin P Guilliams, Réjean Guerriero, et al.
Neurology. Genetics
|
May 12, 2021
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
Annelise Y Mah-Som, Cristina Skrypnyk, Andrea Guerin, et al.
Clinical Genetics
|
October 17, 2022
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord
Parith Wongkittichote, Tae-Ik Choi, Oc-Hee Kim, et al.
Page
of 2