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Journal of Sleep Research
|
May 2, 2023
Evaluation of polysomnography findings in children with genetic skeletal disorders
Halime Nayır Büyükşahin, Nagehan Emiralioglu, Pelin Özlem Simşek Kiper, et al.
Journal of Human Genetics
|
January 6, 2021
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis
Jing-Yi Xue, Pelin O Simsek-Kiper, Gulen Eda Utine, et al.
Journal of Paediatrics and Child Health
|
September 9, 2024
Two cases with undefined childhood interstitial lung disease: Can it be related to telomere variants?
Halime Nayır Büyükşahin, Nagehan Emiralioğlu, Ebru Yalçın, et al.
Human Mutation
|
September 23, 2022
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
Pelin Ozlem Simsek-Kiper, Prince Jacob, Priyanka Upadhyai, et al.
European Journal of Pediatrics
|
September 25, 2021
Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?
Mina Hizal, Ozlem Satırer, Sanem Eryilmaz Polat, et al.
Respiratory Medicine
|
August 19, 2021
Sleep disordered breathing in patients with Prader willi syndrome: Impact of underlying genetic mechanism
Beste Ozsezen, Nagehan Emiralioglu, Alev Özön, et al.
Pediatric Diabetes
|
August 2, 2020
Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group
Z Alev Ozon, Ayfer Alikasifoglu, Nurgun Kandemir, et al.
Human Genetics
|
May 25, 2011
A mutation screen in patients with Kabuki syndrome
Yun Li, Nina Bögershausen, Yasemin Alanay, et al.
European Journal of Human Genetics : EJHG
|
October 21, 2020
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
Julia Brinkmann, Christina Lissewski, Valentina Pinna, et al.
American Journal of Medical Genetics. Part A
|
June 3, 2025
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals
Enise Avci Durmusalioglu, Esra Isik, Turkan Turkut Tan, et al.
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of 16
Search research articles
Search
Showing results (131-140 of 155) with videos related to
Sort By:
Page
of 16
Journal of Sleep Research
|
May 2, 2023
Evaluation of polysomnography findings in children with genetic skeletal disorders
Halime Nayır Büyükşahin, Nagehan Emiralioglu, Pelin Özlem Simşek Kiper, et al.
Journal of Human Genetics
|
January 6, 2021
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis
Jing-Yi Xue, Pelin O Simsek-Kiper, Gulen Eda Utine, et al.
Journal of Paediatrics and Child Health
|
September 9, 2024
Two cases with undefined childhood interstitial lung disease: Can it be related to telomere variants?
Halime Nayır Büyükşahin, Nagehan Emiralioğlu, Ebru Yalçın, et al.
Human Mutation
|
September 23, 2022
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
Pelin Ozlem Simsek-Kiper, Prince Jacob, Priyanka Upadhyai, et al.
European Journal of Pediatrics
|
September 25, 2021
Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?
Mina Hizal, Ozlem Satırer, Sanem Eryilmaz Polat, et al.
Respiratory Medicine
|
August 19, 2021
Sleep disordered breathing in patients with Prader willi syndrome: Impact of underlying genetic mechanism
Beste Ozsezen, Nagehan Emiralioglu, Alev Özön, et al.
Pediatric Diabetes
|
August 2, 2020
Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group
Z Alev Ozon, Ayfer Alikasifoglu, Nurgun Kandemir, et al.
Human Genetics
|
May 25, 2011
A mutation screen in patients with Kabuki syndrome
Yun Li, Nina Bögershausen, Yasemin Alanay, et al.
European Journal of Human Genetics : EJHG
|
October 21, 2020
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
Julia Brinkmann, Christina Lissewski, Valentina Pinna, et al.
American Journal of Medical Genetics. Part A
|
June 3, 2025
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals
Enise Avci Durmusalioglu, Esra Isik, Turkan Turkut Tan, et al.
Page
of 16