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Human Genetics
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September 12, 2000
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13
N Katsanis, S Venable, J R Smith, et al.
Human Genetics
|
September 12, 2000
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients
M De Castro, J García-Planells, E Monrós, et al.
Human Genetics
|
September 12, 2000
Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype
C Turner, N R Dennis, D H Skuse, et al.
Human Genetics
|
September 12, 2000
Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis
L K Su, G Steinbach, J C Sawyer, et al.
Human Genetics
|
February 24, 2001
Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism
S Seixas, O Garcia, M J Trovoada, et al.
Human Genetics
|
February 24, 2001
Human type I hair keratin pseudogene phihHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence
H Winter, L Langbein, M Krawczak, et al.
Human Genetics
|
February 24, 2001
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America
M T Bassi, A A Bergen, P Bitoun, et al.
Human Genetics
|
January 12, 2001
Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy
C Helmken, B Wirth
Human Genetics
|
January 12, 2001
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
A Tessitore, G R Villani, C Di Domenico, et al.
Human Genetics
|
January 11, 2023
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery
Stephanie Luca, Marc Clausen, Angela Shaw, et al.
Page
of 1,127
Search research articles
Search
Showing results (321-330 of 11,262) with videos related to
Sort By:
Page
of 1,127
Human Genetics
|
September 12, 2000
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13
N Katsanis, S Venable, J R Smith, et al.
Human Genetics
|
September 12, 2000
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients
M De Castro, J García-Planells, E Monrós, et al.
Human Genetics
|
September 12, 2000
Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype
C Turner, N R Dennis, D H Skuse, et al.
Human Genetics
|
September 12, 2000
Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis
L K Su, G Steinbach, J C Sawyer, et al.
Human Genetics
|
February 24, 2001
Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism
S Seixas, O Garcia, M J Trovoada, et al.
Human Genetics
|
February 24, 2001
Human type I hair keratin pseudogene phihHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence
H Winter, L Langbein, M Krawczak, et al.
Human Genetics
|
February 24, 2001
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America
M T Bassi, A A Bergen, P Bitoun, et al.
Human Genetics
|
January 12, 2001
Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy
C Helmken, B Wirth
Human Genetics
|
January 12, 2001
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
A Tessitore, G R Villani, C Di Domenico, et al.
Human Genetics
|
January 11, 2023
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery
Stephanie Luca, Marc Clausen, Angela Shaw, et al.
Page
of 1,127