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Pelin Ozlem Simsek-Kiper

About Pelin Ozlem Simsek-Kiper

Pelin Ozlem Simsek-Kiper, With an exceptional h-index of 25 and a recent h-index of 19 (since 2020), a distinguished researcher at Hacettepe Üniversitesi, specializes in the field of Pediatric Genetics.

His recent articles reflect a diverse array of research interests and contributions to the field:

Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature

A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis

Evaluation of clinical and laboratory findings of individuals with Down syndrome: 11 years of experience of a single tertiary centre

Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features

P-40 A rare cause of male infertility: 46, XX testicular disorder of sex development

AP-1-Dependent Fibrosis: Exploring its Potential Role in the Pathogenesis of Placental Transmogrification of the Lung (PTL) via Tissue-Level Transcriptome Analysis

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia

Pelin Ozlem Simsek-Kiper Information

University

Position

Faculty of Medicine

Citations(all)

2485

Citations(since 2020)

1648

Cited By

1450

hIndex(all)

25

hIndex(since 2020)

19

i10Index(all)

44

i10Index(since 2020)

37

Email

University Profile Page

Google Scholar

Pelin Ozlem Simsek-Kiper Skills & Research Interests

Pediatric Genetics

Top articles of Pelin Ozlem Simsek-Kiper

Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature

2024/2/16

A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis

European Journal of Medical Genetics

2024/2/12

Evaluation of clinical and laboratory findings of individuals with Down syndrome: 11 years of experience of a single tertiary centre

Journal of Pediatric Infection/Cocuk Enfeksiyon Dergisi

2023/6/1

Uğur Arslan
Uğur Arslan

H-Index: 10

Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families

Molecular Syndromology

2024

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features

Molecular Syndromology

2024

P-40 A rare cause of male infertility: 46, XX testicular disorder of sex development

JCEM Case Reports

2024/1

Pelin Ozlem Simsek-Kiper
Pelin Ozlem Simsek-Kiper

H-Index: 17

AP-1-Dependent Fibrosis: Exploring its Potential Role in the Pathogenesis of Placental Transmogrification of the Lung (PTL) via Tissue-Level Transcriptome Analysis

Pathology-Research and Practice

2024/4/26

Beren Karaosmanoglu
Beren Karaosmanoglu

H-Index: 5

Feridun Cahit Tanyel
Feridun Cahit Tanyel

H-Index: 20

Tutku Soyer
Tutku Soyer

H-Index: 11

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia

American Journal of Medical Genetics Part A

2024/4/22

Tutku Soyer
Tutku Soyer

H-Index: 11

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families

European Journal of Medical Genetics

2024/4/1

Evaluation of polysomnography findings in children with genetic skeletal disorders

Journal of sleep research

2023/10

Nagehan Emiralioglu
Nagehan Emiralioglu

H-Index: 11

Koray Boduroglu
Koray Boduroglu

H-Index: 17

Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinks

Movement Disorders Clinical Practice

2023/8

Assessing the Menstrual Cycle and Related Problems in Adolescents with a Genetic Syndrome Associated with Intellectual Disability

Journal of Pediatric and Adolescent Gynecology

2023/8/1

Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome

Molecular Syndromology

2023/5/31

Beren Karaosmanoglu
Beren Karaosmanoglu

H-Index: 5

Pelin Ozlem Simsek-Kiper
Pelin Ozlem Simsek-Kiper

H-Index: 17

Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature

2023/4/1

Engin Demir
Engin Demir

H-Index: 5

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients

European Journal of Medical Genetics

2023/4/1

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features

American Journal of Medical Genetics Part A

2023/4

Advancing our understanding of the genetic and functional basis of skeletal dysplasia

Frontiers in Genetics

2023/1/27

Yi Zhang
Yi Zhang

H-Index: 13

Pelin Ozlem Simsek-Kiper
Pelin Ozlem Simsek-Kiper

H-Index: 17

Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions

Molecular Syndromology

2023/1/5

Mozaik Trizomi 8 Sendromu Tanılı Beş Olgunun Klinik Özelliklerinin Değerlendirilmesi: Olgu Serisi

Türkiye Klinikleri Pediatri Dergisi

2023

Otizm Spektrum Bozukluğunda Klinik Genetik Yaklaşım

Turkiye Klinikleri Pediatric Genetic Diseases-Special Topics

2022

See List of Professors in Pelin Ozlem Simsek-Kiper University(Hacettepe Üniversitesi)