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Gene
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April 10, 2012
Familial dorsalization of the skin of the proximal palm and the instep of the sole of the foot
M M Al-Qattan, H E Shamseldin, F S Alkuraya
Gene
|
December 26, 2012
The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes
M M Al-Qattan, H E Shamseldin, F S Alkuraya
Clinical Genetics
|
February 23, 2017
GLI3-related polydactyly: a review
M M Al-Qattan, H E Shamseldin, M A Salih, et al.
Clinical Genetics
|
December 2, 2016
A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency
F Al Mutairi, H E Shamseldin, M Alfadhel, et al.
Clinical Genetics
|
May 16, 2017
WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome
J Suleiman, D Allingham-Hawkins, M Hashem, et al.
Clinical Genetics
|
January 13, 2018
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy
M Almannai, A Alasmari, A Alqasmi, et al.
Molecular Psychiatry
|
July 20, 2016
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
S Anazi, S Maddirevula, E Faqeih, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
Gene
|
April 10, 2012
Familial dorsalization of the skin of the proximal palm and the instep of the sole of the foot
M M Al-Qattan, H E Shamseldin, F S Alkuraya
Gene
|
December 26, 2012
The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes
M M Al-Qattan, H E Shamseldin, F S Alkuraya
Clinical Genetics
|
February 23, 2017
GLI3-related polydactyly: a review
M M Al-Qattan, H E Shamseldin, M A Salih, et al.
Clinical Genetics
|
December 2, 2016
A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency
F Al Mutairi, H E Shamseldin, M Alfadhel, et al.
Clinical Genetics
|
May 16, 2017
WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome
J Suleiman, D Allingham-Hawkins, M Hashem, et al.
Clinical Genetics
|
January 13, 2018
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy
M Almannai, A Alasmari, A Alqasmi, et al.
Molecular Psychiatry
|
July 20, 2016
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
S Anazi, S Maddirevula, E Faqeih, et al.
Page
of 1