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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.
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.
Ophthalmic Genetics
|
August 13, 2025
Retinal astrocytoma and Jeune syndrome relationship from ciliopathy perspective: a case report
Deniz Alyan, Hayyam Kiratli, Irem Koc, 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.
American Journal of Medical Genetics. Part A
|
May 2, 2015
Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis
Eda Didem Kurt-Sukur, Pelin Ozlem Simsek-Kiper, Gülen Eda Utine, et al.
Molecular Syndromology
|
June 16, 2023
Mutated Transcripts of <i>ZEB2</i> Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome
Naz Güleray Lafcı, Beren Karaosmanoglu, Ekim Z Taskiran, 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.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
October 23, 2012
Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p
Ozlem Dikmetas, Pelin Ozlem Simsek Kiper, Mehmet C Mocan, et al.
Journal of Child Neurology
|
April 19, 2021
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity
Özlem Akgün-Doğan, Pelin Ozlem Simsek-Kiper, Ekim Taşkıran, et al.
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Search research articles
Search
Showing results (1-10 of 43) with videos related to
Sort By:
Page
of 5
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.
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.
Ophthalmic Genetics
|
August 13, 2025
Retinal astrocytoma and Jeune syndrome relationship from ciliopathy perspective: a case report
Deniz Alyan, Hayyam Kiratli, Irem Koc, 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.
American Journal of Medical Genetics. Part A
|
May 2, 2015
Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis
Eda Didem Kurt-Sukur, Pelin Ozlem Simsek-Kiper, Gülen Eda Utine, et al.
Molecular Syndromology
|
June 16, 2023
Mutated Transcripts of <i>ZEB2</i> Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome
Naz Güleray Lafcı, Beren Karaosmanoglu, Ekim Z Taskiran, 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.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
October 23, 2012
Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p
Ozlem Dikmetas, Pelin Ozlem Simsek Kiper, Mehmet C Mocan, et al.
Journal of Child Neurology
|
April 19, 2021
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity
Özlem Akgün-Doğan, Pelin Ozlem Simsek-Kiper, Ekim Taşkıran, et al.
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of 5