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International Journal of Molecular Sciences
|
February 13, 2025
Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia
Gozde Imren, Beren Karaosmanoglu, Bihter Muratoglu, et al.
Molecular Syndromology
|
November 23, 2020
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia
Dogus Vuralli, Can Kosukcu, Ekim Taskiran, et al.
Differentiation; Research in Biological Diversity
|
July 13, 2026
A synonymous NPR2 variant causes acromesomelic dysplasia through aberrant pre-mRNA splicing
Nazli Busra Acikgoz, Hasan Basri Kılıç, Gizem Urel Demir, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2013
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome
Esra Dikoglu, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2012
IMPAD1 mutations in two Catel-Manzke like patients
Mathilde Nizon, Yasemin Alanay, Beyhan Tuysuz, et al.
American Journal of Medical Genetics. Part A
|
August 8, 2014
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation
Pelin Ozlem Simsek-Kiper, Esra Dikoglu, Belinda Campos-Xavier, et al.
Molecular Syndromology
|
May 7, 2026
Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis
Yuko Tsujioka, Pelin Ozlem Simsek Kiper, Sheila Unger, et al.
Fetal and Pediatric Pathology
|
July 16, 2019
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing
Naz Guleray, Can Kosukcu, Zihni Ekim Taskiran, et al.
Neuromuscular Disorders : NMD
|
October 4, 2022
Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome
Ayca Burcu Kahraman, Bekir Karakaya, Yılmaz Yıldız, et al.
American Journal of Medical Genetics. Part A
|
December 1, 2020
A rare cause of syndromic short stature: 3M syndrome in three families
Esra Isik, Duygu Arican, Tahir Atik, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 43) with videos related to
Sort By:
Page
of 5
International Journal of Molecular Sciences
|
February 13, 2025
Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia
Gozde Imren, Beren Karaosmanoglu, Bihter Muratoglu, et al.
Molecular Syndromology
|
November 23, 2020
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia
Dogus Vuralli, Can Kosukcu, Ekim Taskiran, et al.
Differentiation; Research in Biological Diversity
|
July 13, 2026
A synonymous NPR2 variant causes acromesomelic dysplasia through aberrant pre-mRNA splicing
Nazli Busra Acikgoz, Hasan Basri Kılıç, Gizem Urel Demir, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2013
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome
Esra Dikoglu, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2012
IMPAD1 mutations in two Catel-Manzke like patients
Mathilde Nizon, Yasemin Alanay, Beyhan Tuysuz, et al.
American Journal of Medical Genetics. Part A
|
August 8, 2014
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation
Pelin Ozlem Simsek-Kiper, Esra Dikoglu, Belinda Campos-Xavier, et al.
Molecular Syndromology
|
May 7, 2026
Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis
Yuko Tsujioka, Pelin Ozlem Simsek Kiper, Sheila Unger, et al.
Fetal and Pediatric Pathology
|
July 16, 2019
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing
Naz Guleray, Can Kosukcu, Zihni Ekim Taskiran, et al.
Neuromuscular Disorders : NMD
|
October 4, 2022
Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome
Ayca Burcu Kahraman, Bekir Karakaya, Yılmaz Yıldız, et al.
American Journal of Medical Genetics. Part A
|
December 1, 2020
A rare cause of syndromic short stature: 3M syndrome in three families
Esra Isik, Duygu Arican, Tahir Atik, et al.
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of 5