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Ophthalmic Genetics
|
September 24, 2016
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia
E Ullah, D Wu, L Madireddy, et al.
Clinical Genetics
|
March 30, 2010
Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan
M A Rafiq, M Ansar, C R Marshall, et al.
Clinical and Experimental Dermatology
|
March 24, 2011
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan
S Khan, R Habib, H Mir, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
December 23, 2015
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families
F Ahmad, M Ansar, S Mehmood, et al.
Molecular Psychiatry
|
April 12, 2017
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
R Harripaul, N Vasli, A Mikhailov, et al.
Molecular Psychiatry
|
July 27, 2016
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
S Riazuddin, M Hussain, A Razzaq, et al.
Molecular Psychiatry
|
September 2, 2018
Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
S Riazuddin, M Hussain, A Razzaq, et al.
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of 6
Search research articles
Search
Showing results (51-60 of 57) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 57 results.
Ophthalmic Genetics
|
September 24, 2016
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia
E Ullah, D Wu, L Madireddy, et al.
Clinical Genetics
|
March 30, 2010
Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan
M A Rafiq, M Ansar, C R Marshall, et al.
Clinical and Experimental Dermatology
|
March 24, 2011
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan
S Khan, R Habib, H Mir, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
December 23, 2015
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families
F Ahmad, M Ansar, S Mehmood, et al.
Molecular Psychiatry
|
April 12, 2017
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
R Harripaul, N Vasli, A Mikhailov, et al.
Molecular Psychiatry
|
July 27, 2016
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
S Riazuddin, M Hussain, A Razzaq, et al.
Molecular Psychiatry
|
September 2, 2018
Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability
S Riazuddin, M Hussain, A Razzaq, et al.
Page
of 6