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Journal of Dermatological Science
|
October 21, 2015
Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis
Raja Hussain Ali, Sabba Mahmood, Syed Irfan Raza, et al.
American Journal of Human Genetics
|
December 28, 2010
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74
Zubair M Ahmed, Rizwan Yousaf, Byung Cheon Lee, et al.
American Journal of Human Genetics
|
May 1, 2012
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability
Muzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, et al.
Investigative Ophthalmology & Visual Science
|
September 13, 2018
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa
Zahid Latif, Imen Chakchouk, Isabelle Schrauwen, et al.
International Journal of Dermatology
|
November 14, 2017
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families
Khadim Shah, Sabba Mehmood, Abid Jan, et al.
Human Molecular Genetics
|
February 1, 2014
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish
Regie Lyn P Santos-Cortez, Kwanghyuk Lee, Arnaud P Giese, et al.
American Journal of Human Genetics
|
February 9, 2010
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment
Margit Schraders, Kwanghyuk Lee, Jaap Oostrik, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 6, 2018
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice
Isabelle Schrauwen, Arnaud Pj Giese, Abdul Aziz, et al.
Human Molecular Genetics
|
June 13, 2018
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans
Zohreh Fattahi, Taimoor I Sheikh, Luciana Musante, et al.
American Journal of Human Genetics
|
October 6, 2018
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts
Muhammad Ansar, Hyung-Lok Chung, Rachel L Taylor, et al.
Page
of 20
Search research articles
Search
Showing results (141-150 of 191) with videos related to
Sort By:
Page
of 20
Journal of Dermatological Science
|
October 21, 2015
Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis
Raja Hussain Ali, Sabba Mahmood, Syed Irfan Raza, et al.
American Journal of Human Genetics
|
December 28, 2010
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74
Zubair M Ahmed, Rizwan Yousaf, Byung Cheon Lee, et al.
American Journal of Human Genetics
|
May 1, 2012
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability
Muzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, et al.
Investigative Ophthalmology & Visual Science
|
September 13, 2018
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa
Zahid Latif, Imen Chakchouk, Isabelle Schrauwen, et al.
International Journal of Dermatology
|
November 14, 2017
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families
Khadim Shah, Sabba Mehmood, Abid Jan, et al.
Human Molecular Genetics
|
February 1, 2014
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish
Regie Lyn P Santos-Cortez, Kwanghyuk Lee, Arnaud P Giese, et al.
American Journal of Human Genetics
|
February 9, 2010
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment
Margit Schraders, Kwanghyuk Lee, Jaap Oostrik, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 6, 2018
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice
Isabelle Schrauwen, Arnaud Pj Giese, Abdul Aziz, et al.
Human Molecular Genetics
|
June 13, 2018
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans
Zohreh Fattahi, Taimoor I Sheikh, Luciana Musante, et al.
American Journal of Human Genetics
|
October 6, 2018
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts
Muhammad Ansar, Hyung-Lok Chung, Rachel L Taylor, et al.
Page
of 20