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American Journal of Medical Genetics. Part A
|
May 13, 2017
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center
Angela C Summers, Joseph Snow, Edythe Wiggs, et al.
Investigative Ophthalmology & Visual Science
|
April 27, 2022
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease
Zelia Corradi, Manar Salameh, Mubeen Khan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
August 10, 2020
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis
Elena R Schiff, Malena Daich Varela, Anthony G Robson, et al.
Plants (Basel, Switzerland)
|
August 12, 2022
Antioxidants Application Enhances Regeneration and Conversion of Date Palm (<i>Phoenix dactylifera</i> L.) Somatic Embryos
Amal F M Zein El Din, Rasmia S S Darwesh, Mohamed F M Ibrahim, et al.
Ophthalmology
|
October 1, 2011
Ocular manifestations of trichothiodystrophy
Brian P Brooks, Amy H Thompson, Janine A Clayton, et al.
American Journal of Medical Genetics. Part A
|
July 31, 2021
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A)
Alessandro Iannaccone, Carmen C Brewer, Peiyao Cheng, et al.
Journal De Mycologie Medicale
|
August 21, 2021
Disseminated Rhinocladiella mackenziei infection in a kidney transplant recipient: A case report and literature review
Torki M Al Otaibi, Osama A Gheith, Khaled Alobaid, et al.
Brain : a Journal of Neurology
|
June 11, 2021
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort
Diana X Bharucha-Goebel, Gina Norato, Dimah Saade, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder
Zoe Wolfenson, Gabriella Grois, Ruth F Hailemeskel, et al.
Journal of Medical Genetics
|
September 20, 2015
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
May Christine V Malicdan, Thierry Vilboux, Joshi Stephen, et al.
Page
of 13
Search research articles
Search
Showing results (101-110 of 130) with videos related to
Sort By:
Page
of 13
American Journal of Medical Genetics. Part A
|
May 13, 2017
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center
Angela C Summers, Joseph Snow, Edythe Wiggs, et al.
Investigative Ophthalmology & Visual Science
|
April 27, 2022
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease
Zelia Corradi, Manar Salameh, Mubeen Khan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
August 10, 2020
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis
Elena R Schiff, Malena Daich Varela, Anthony G Robson, et al.
Plants (Basel, Switzerland)
|
August 12, 2022
Antioxidants Application Enhances Regeneration and Conversion of Date Palm (<i>Phoenix dactylifera</i> L.) Somatic Embryos
Amal F M Zein El Din, Rasmia S S Darwesh, Mohamed F M Ibrahim, et al.
Ophthalmology
|
October 1, 2011
Ocular manifestations of trichothiodystrophy
Brian P Brooks, Amy H Thompson, Janine A Clayton, et al.
American Journal of Medical Genetics. Part A
|
July 31, 2021
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A)
Alessandro Iannaccone, Carmen C Brewer, Peiyao Cheng, et al.
Journal De Mycologie Medicale
|
August 21, 2021
Disseminated Rhinocladiella mackenziei infection in a kidney transplant recipient: A case report and literature review
Torki M Al Otaibi, Osama A Gheith, Khaled Alobaid, et al.
Brain : a Journal of Neurology
|
June 11, 2021
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort
Diana X Bharucha-Goebel, Gina Norato, Dimah Saade, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder
Zoe Wolfenson, Gabriella Grois, Ruth F Hailemeskel, et al.
Journal of Medical Genetics
|
September 20, 2015
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
May Christine V Malicdan, Thierry Vilboux, Joshi Stephen, et al.
Page
of 13