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Pediatric Neurology
|
October 18, 2011
Neurologic presentation of triple A syndrome
Abhijit Dixit, Gabriel Chow, Ajoy Sarkar
BMC Ophthalmology
|
January 9, 2019
Bilateral NAION and GPIbα gene
Christina S Lim, Ajoy Sarkar, Christopher Knapp
Scientific Reports
|
March 26, 2022
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan
Eva-Lena Stattin, Karin Lindblom, André Struglics, et al.
Journal of Exposure Science & Environmental Epidemiology
|
September 20, 2012
Arsenic-induced toxicity and carcinogenicity: a two-wave cross-sectional study in arsenicosis individuals in West Bengal, India
Somnath Paul, Nandana Das, Pritha Bhattacharjee, et al.
American Journal of Medical Genetics. Part A
|
February 1, 2018
Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals
Ceris I Owen, Ramsay Bowden, Michael J Parker, et al.
American Journal of Human Genetics
|
October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
Stuart Aitken, Helen V Firth, Jeremy McRae, et al.
Investigative Ophthalmology & Visual Science
|
March 13, 2016
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140
Sarah Hull, Nicholas Owen, Farrah Islam, et al.
European Journal of Human Genetics : EJHG
|
August 22, 2008
The mutation spectrum in RECQL4 diseases
H Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2009
Nicolaides-Baraitser syndrome: Delineation of the phenotype
Sérgio B Sousa, Omar A Abdul-Rahman, Armand Bottani, et al.
Ophthalmic Genetics
|
January 25, 2023
Individuals with heterozygous variants in the Wnt-signalling pathway gene <i>FZD5</i> delineate a phenotype characterized by isolated coloboma and variable expressivity
Richard Holt, David Goudie, Alejandra Damián Verde, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 20) with videos related to
Sort By:
Page
of 2
Pediatric Neurology
|
October 18, 2011
Neurologic presentation of triple A syndrome
Abhijit Dixit, Gabriel Chow, Ajoy Sarkar
BMC Ophthalmology
|
January 9, 2019
Bilateral NAION and GPIbα gene
Christina S Lim, Ajoy Sarkar, Christopher Knapp
Scientific Reports
|
March 26, 2022
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan
Eva-Lena Stattin, Karin Lindblom, André Struglics, et al.
Journal of Exposure Science & Environmental Epidemiology
|
September 20, 2012
Arsenic-induced toxicity and carcinogenicity: a two-wave cross-sectional study in arsenicosis individuals in West Bengal, India
Somnath Paul, Nandana Das, Pritha Bhattacharjee, et al.
American Journal of Medical Genetics. Part A
|
February 1, 2018
Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals
Ceris I Owen, Ramsay Bowden, Michael J Parker, et al.
American Journal of Human Genetics
|
October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
Stuart Aitken, Helen V Firth, Jeremy McRae, et al.
Investigative Ophthalmology & Visual Science
|
March 13, 2016
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140
Sarah Hull, Nicholas Owen, Farrah Islam, et al.
European Journal of Human Genetics : EJHG
|
August 22, 2008
The mutation spectrum in RECQL4 diseases
H Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2009
Nicolaides-Baraitser syndrome: Delineation of the phenotype
Sérgio B Sousa, Omar A Abdul-Rahman, Armand Bottani, et al.
Ophthalmic Genetics
|
January 25, 2023
Individuals with heterozygous variants in the Wnt-signalling pathway gene <i>FZD5</i> delineate a phenotype characterized by isolated coloboma and variable expressivity
Richard Holt, David Goudie, Alejandra Damián Verde, et al.
Page
of 2