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American Journal of Medical Genetics. Part A
|
May 3, 2014
Barraquer-Simons syndrome: a rare clinical entity
Pelin Ozlem Simsek-Kiper, Emir Roach, Gulen Eda Utine, et al.
Pediatric Radiology
|
May 23, 2006
Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome
Yasemin Alanay, Gulen Eda Utine, Ralph S Lachman, et al.
American Journal of Medical Genetics. Part A
|
May 10, 2022
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience
Ayca Burcu Kahraman, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, et al.
European Journal of Medical Genetics
|
November 30, 2018
Intrafamilial variability of XYLT2-related spondyloocular syndrome
Naz Guleray, Pelin Ozlem Simsek Kiper, Gulen Eda Utine, et al.
Molecular Syndromology
|
December 24, 2025
<i>PIK3CA</i>-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report
Nazli Busra Acikgoz, Damla Yildiz, Gizem Urel-Demir, et al.
Neuropediatrics
|
July 15, 2020
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion
Pelin Ozlem Simsek-Kiper, Sumeyra Oguz, Fatma Bilge Ergen, et al.
European Journal of Medical Genetics
|
June 2, 2019
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17
Suleyman Nahit Sendur, Sumeyra Oguz, Gulen Eda Utine, et al.
Molecular Syndromology
|
February 15, 2024
Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome
Cansu Kethuda Ensert Cihan, Halil Tuna Akar, Yılmaz Yıldız, et al.
Molecular Syndromology
|
October 13, 2025
Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?
Melisa Akgoz Koyuncuoglu, Hande Taylan Sekeroglu, Gizem Urel Demir, et al.
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.
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Search research articles
Search
Showing results (1-10 of 39) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics. Part A
|
May 3, 2014
Barraquer-Simons syndrome: a rare clinical entity
Pelin Ozlem Simsek-Kiper, Emir Roach, Gulen Eda Utine, et al.
Pediatric Radiology
|
May 23, 2006
Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome
Yasemin Alanay, Gulen Eda Utine, Ralph S Lachman, et al.
American Journal of Medical Genetics. Part A
|
May 10, 2022
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience
Ayca Burcu Kahraman, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, et al.
European Journal of Medical Genetics
|
November 30, 2018
Intrafamilial variability of XYLT2-related spondyloocular syndrome
Naz Guleray, Pelin Ozlem Simsek Kiper, Gulen Eda Utine, et al.
Molecular Syndromology
|
December 24, 2025
<i>PIK3CA</i>-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report
Nazli Busra Acikgoz, Damla Yildiz, Gizem Urel-Demir, et al.
Neuropediatrics
|
July 15, 2020
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion
Pelin Ozlem Simsek-Kiper, Sumeyra Oguz, Fatma Bilge Ergen, et al.
European Journal of Medical Genetics
|
June 2, 2019
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17
Suleyman Nahit Sendur, Sumeyra Oguz, Gulen Eda Utine, et al.
Molecular Syndromology
|
February 15, 2024
Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome
Cansu Kethuda Ensert Cihan, Halil Tuna Akar, Yılmaz Yıldız, et al.
Molecular Syndromology
|
October 13, 2025
Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?
Melisa Akgoz Koyuncuoglu, Hande Taylan Sekeroglu, Gizem Urel Demir, et al.
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.
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of 4