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BMC Medical Genomics
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August 5, 2024
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism
Mohammad-Reza Ghasemi, Hossein Sadeghi, Farzad Hashemi-Gorji, et al.
American Journal of Human Genetics
|
October 7, 2008
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
Hyung-Goo Kim, Ingo Kurth, Fei Lan, et al.
EMBO Reports
|
December 22, 2017
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome
Yeon-Joo Kim, Daniel Ps Osborn, Ji-Young Lee, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 25, 2015
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency
Jin-Ho Choi, Ravikumar Balasubramanian, Phil H Lee, et al.
Research Square
|
April 10, 2023
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.
Scientific Reports
|
August 10, 2023
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.
Human Mutation
|
April 14, 2025
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of <i>PGAP2</i> Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)
Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, et al.
Fertility and Sterility
|
February 9, 2011
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome
Ning Xu, Hyung-Goo Kim, Balasubramanian Bhagavath, et al.
Genes
|
November 14, 2020
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families
Julia Doll, Barbara Vona, Linda Schnapp, et al.
Frontiers in Molecular Neuroscience
|
October 24, 2022
A rigorous <i>in silico</i> genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders
Afif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, et al.
Page
of 11
Search research articles
Search
Showing results (91-100 of 104) with videos related to
Sort By:
Page
of 11
BMC Medical Genomics
|
August 5, 2024
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism
Mohammad-Reza Ghasemi, Hossein Sadeghi, Farzad Hashemi-Gorji, et al.
American Journal of Human Genetics
|
October 7, 2008
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
Hyung-Goo Kim, Ingo Kurth, Fei Lan, et al.
EMBO Reports
|
December 22, 2017
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome
Yeon-Joo Kim, Daniel Ps Osborn, Ji-Young Lee, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 25, 2015
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency
Jin-Ho Choi, Ravikumar Balasubramanian, Phil H Lee, et al.
Research Square
|
April 10, 2023
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.
Scientific Reports
|
August 10, 2023
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.
Human Mutation
|
April 14, 2025
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of <i>PGAP2</i> Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)
Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, et al.
Fertility and Sterility
|
February 9, 2011
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome
Ning Xu, Hyung-Goo Kim, Balasubramanian Bhagavath, et al.
Genes
|
November 14, 2020
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families
Julia Doll, Barbara Vona, Linda Schnapp, et al.
Frontiers in Molecular Neuroscience
|
October 24, 2022
A rigorous <i>in silico</i> genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders
Afif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, et al.
Page
of 11