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European Journal of Medical Genetics
|
April 24, 2020
Novel EDAR mutation in tooth agenesis and variable associated features
Sara Mumtaz, Gökhan Nalbant, Esra Yıldız Bölükbaşı, et al.
The Yale Journal of Biology and Medicine
|
April 1, 2026
Homozygous <i>PTRHD1</i> Mutation in Intellectual Disability and Atypical Parkinsonism
Esra Yıldız Bölükbaşı, Sara Mumtaz, Muhammad Afzal, et al.
The Yale Journal of Biology and Medicine
|
October 2, 2023
Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma
Syeda Farwa Naqvi, Esra Yıldız-Bölükbaşı, Muhammad Afzal, et al.
Saudi Journal of Biological Sciences
|
November 12, 2021
Association of TNF-α polymorphisms (-857, -863 and -1031), TNF-α serum level and lipid profile with acne vulgaris
Sidra Younis, Sana Shamim, Kanwal Nisar, et al.
The Yale Journal of Biology and Medicine
|
October 2, 2023
A Stop-gain Variant c.220C>T (p.(Gln74*)) in <i>FLNB</i> Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family
Hamna Shahid, Nazish Shakoor, Anisa Bibi, et al.
American Journal of Human Genetics
|
December 4, 2014
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type
Sajid Malik, Ferda E Percin, Dorothea Bornholdt, et al.
The EMBO Journal
|
December 14, 2021
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis
Danilo Bilches Medinas, Sajid Malik, Esra Yıldız-Bölükbaşı, et al.
Nature
|
March 27, 2025
The contribution of de novo coding mutations to meningomyelocele
Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, et al.
Science (New York, N.Y.)
|
May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletion
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.
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Search research articles
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Showing results (21-30 of 29) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 29 results.
European Journal of Medical Genetics
|
April 24, 2020
Novel EDAR mutation in tooth agenesis and variable associated features
Sara Mumtaz, Gökhan Nalbant, Esra Yıldız Bölükbaşı, et al.
The Yale Journal of Biology and Medicine
|
April 1, 2026
Homozygous <i>PTRHD1</i> Mutation in Intellectual Disability and Atypical Parkinsonism
Esra Yıldız Bölükbaşı, Sara Mumtaz, Muhammad Afzal, et al.
The Yale Journal of Biology and Medicine
|
October 2, 2023
Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma
Syeda Farwa Naqvi, Esra Yıldız-Bölükbaşı, Muhammad Afzal, et al.
Saudi Journal of Biological Sciences
|
November 12, 2021
Association of TNF-α polymorphisms (-857, -863 and -1031), TNF-α serum level and lipid profile with acne vulgaris
Sidra Younis, Sana Shamim, Kanwal Nisar, et al.
The Yale Journal of Biology and Medicine
|
October 2, 2023
A Stop-gain Variant c.220C>T (p.(Gln74*)) in <i>FLNB</i> Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family
Hamna Shahid, Nazish Shakoor, Anisa Bibi, et al.
American Journal of Human Genetics
|
December 4, 2014
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type
Sajid Malik, Ferda E Percin, Dorothea Bornholdt, et al.
The EMBO Journal
|
December 14, 2021
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis
Danilo Bilches Medinas, Sajid Malik, Esra Yıldız-Bölükbaşı, et al.
Nature
|
March 27, 2025
The contribution of de novo coding mutations to meningomyelocele
Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, et al.
Science (New York, N.Y.)
|
May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletion
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.
Page
of 3