Doç. Dr. Filiz Hazan

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients

Clinical Genetics, 2026

DOI 10.1111/cge.70225 PMID 42618064 Kaynak: OpenAlex

A Rare Cause of Intellectual Disability: Novel Mutation of ALKBH8 Gene in Two Different Families and Review of the Literature

American journal of medical genetics. Part A, 2026

DOI 10.1002/ajmg.a.70341 PMID 42951831 Açık erişimli tam metinKaynak: Europe PMC

TRACK Syndrome Caused by Homozygous TSEN2 c.1100-5T>A Variant Presenting with Atypical Hemolytic Uremic Syndrome and Early End-Stage Kidney Disease

Pediatric Practice and Research, 2026

DOI 10.21765/pprjournal.1833482 Açık erişimli tam metinKaynak: OpenAlex

Retrovesical Hybrid Benign Peripheral Nerve Sheath Tumor with a Heterozygous Germline NF2 Deletion in a 12-Year-Old Boy: A Case Report

Fetal and pediatric pathology, 2026

DOI 10.1080/15513815.2026.2713539 PMID 42623304 Kaynak: Europe PMC

Genetic evaluation of a group of patients with transient congenital hypothyroidism by targeted exome sequencing

Journal of pediatric endocrinology & metabolism : JPEM, 2026

DOI 10.1515/jpem-2026-0119 PMID 42112595 1 atıf (Europe PMC) Kaynak: Europe PMC

Clinical spectrum and genetic landscape of MTHFR deficiency: a cohort study including novel variants

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026

DOI 10.1007/s10072-026-09447-w PMID 42825826 Kaynak: Europe PMC

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny–Caffey syndrome type 2

Journal of Pediatric Endocrinology and Metabolism, 2026

DOI 10.1515/jpem-2025-0584 PMID 41842913 Kaynak: OpenAlex

Clinical and molecular characterization of 5α-reductase deficiency type 2 in 13 patients: First report of a family with homozygous deletion in exon 1 of SRD5A2

Archives de Pédiatrie, 2026

DOI 10.1016/j.arcped.2026.105602 PMID 42636744 Kaynak: OpenAlex

A Candidate Gene for Cerebro-Oculo-Nasal Syndrome: A Zinc-Finger Gene ZNF185 Located at Xq28

Molecular Syndromology, 2025

DOI 10.1159/000549375 PMID 41404552 Açık erişimli tam metinKaynak: OpenAlex

The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes

Pediatric Neurology, 2025

DOI 10.1016/j.pediatrneurol.2025.01.016 PMID 39951932 1 atıf (Europe PMC) Kaynak: ORCID

Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel case

BMC immunology, 2025

DOI 10.1186/s12865-025-00774-9 PMID 41225329 2 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

Pamidronate Treatment of a Patient with Opsismodysplasia and a Novel INPPL1 Variant: Efficacy, Mechanism, and Clinical Outcomes

Molecular Syndromology, 2025

DOI 10.1159/000546324 PMID 40620719 2 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

Challenges in the treatment and long-term follow-up results of children with resistance to thyroid hormone-sz

Endocrine Abstracts, 2025

DOI 10.1530/endoabs.110.p1211 Kaynak: OpenAlex

Hypoparathyroidism: clinical and genetic characteristics with long-term outcomes

Endocrine Abstracts, 2025

DOI 10.1530/endoabs.110.ep226 Kaynak: OpenAlex

A Rare Case of Cystic Hygroma and Familial Nystagmus in a Newborn with SHOC2 Gene Mutation

Journal of Dr Behcet Uz Children s Hospital, 2025

DOI 10.4274/jbuch.galenos.2025.95770 Açık erişimli tam metinKaynak: OpenAlex

SCOT Deficiency Mimicking Sepsis: An Unusual Cause of Increased Anion Gap Metabolic Acidosis

Journal of Basic and Clinical Health Sciences, 2024

DOI 10.30621/jbachs.1217436 Açık erişimli tam metinKaynak: ORCID

A rare case of skeletal dysplasia: biallelic variant in <i>ACAN</i> gene

Journal of pediatric endocrinology & metabolism : JPEM, 2024

DOI 10.1515/jpem-2024-0255 PMID 39295451 Kaynak: Europe PMC

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants

European Journal of Pediatrics, 2024

DOI 10.1007/s00431-024-05825-8 PMID 39725732 4 atıf (OpenAlex) Kaynak: OpenAlex

Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development

Journal of Pediatric Endocrinology and Metabolism, 2024

DOI 10.1515/jpem-2023-0551 PMID 38650427 2 atıf (OpenAlex) Kaynak: OpenAlex

A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2023

DOI 10.1002/jdn.10280 PMID 37336770 3 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes

Archives of Endocrinology and Metabolism, 2023

DOI 10.20945/2359-4292-2022-0254 PMID 37948564 2 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

Genetic and clinical characteristics of Turkish children with Maturity Onset Diabetes of the Young Type 2 (MODY2): A single center experience

Interdisciplinary Medical Journal, 2023

DOI 10.17944/interdiscip.1285735 Açık erişimli tam metinKaynak: OpenAlex

A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonicity: A Novel Mutation in Chloride Voltage-Gated Channel 7 Gene

Sisli Etfal Hastanesi tip bulteni, 2022

DOI 10.14744/semb.2021.88964 PMID 35515972 2 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis

Frontiers in Genetics, 2022

DOI 10.3389/fgene.2022.938814 PMID 35812760 2 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1

Sisli Etfal Hastanesi Tip Bülteni, 2022

DOI 10.14744/semb.2021.28044 PMID 35990289 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Dysosteosclerosis is also caused by null mutations of TNFRSF11A

Hormone Research in Paediatrics, 2022

Kaynak: ORCID

Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them

Psychiatric Genetics, 2022

DOI 10.1097/ypg.0000000000000323 PMID 36125370 4 atıf (Europe PMC) Kaynak: ORCID

Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7

Journal of Endocrinological Investigation, 2022

DOI 10.1007/s40618-021-01706-1 PMID 34780050 9 atıf (Europe PMC) Kaynak: ORCID

Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing

Journal of Pediatric Endocrinology and Metabolism, 2022

DOI 10.1515/jpem-2022-0027 PMID 35801948 12 atıf (Europe PMC) Kaynak: ORCID

Two different syndromic craniosynostosis in the same family

European Journal of Human Genetics, 2022

Kaynak: ORCID

Evaluation of the Clinical and Laboratory Findings of Patients with Chromosome 22q11.2 Deletion Syndrome

Turkiye Klinikleri Journal of Pediatrics, 2021

DOI 10.5336/pediatr.2021-81283 Açık erişimli tam metinKaynak: OpenAlex

Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants

Neurological Sciences, 2021

DOI 10.1007/s10072-020-04988-0 PMID 33443663 1 atıf (Europe PMC) Kaynak: ORCID

Clinical Evaluation of Patients with Classical Rett Syndrome and MECP2 Gene Analysis

Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi, 2021

DOI 10.5505/deutfd.2021.50133 2 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature

Advanced Biomedicine, 2021

DOI 10.54730/abm.2021.030405 Açık erişimli tam metinKaynak: OpenAlex

Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation

Molecular Syndromology, 2021

DOI 10.1159/000515697 PMID 34602953 6 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Identification of two AMH gene variants in two unrelated patients with persistent Mullerian duct syndrome: one novel variant

Gynecological Endocrinology, 2021

DOI 10.1080/09513590.2021.1908253 PMID 33787423 2 atıf (Europe PMC) Kaynak: ORCID

Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study

The Journal of Pediatric Research, 2021

DOI 10.4274/jpr.galenos.2021.10179 2 atıf (OpenAlex) Açık erişimli tam metinKaynak: ORCID

Association of arms2 gene rs10490924 and htra1 gene rs11200638 polymorphisms with exudative age-related macular degeneration in western aegean population of turkey

Journal of Retina-Vitreous, 2021

DOI 10.37845/ret.vit.2021.30.31 Kaynak: OpenAlex

Do microdeletions lead to immune deficiency?

Central European Journal of Immunology, 2020

DOI 10.5114/ceji.2020.94671 PMID 32425682 5 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

TGM1 mutation spectrum in patients with lamellar ichthyosis

European Journal of Human Genetics, 2020

Kaynak: ORCID

A novel PGAP3 mutation in two siblings with hyperphosphatasia with mental retardation syndrome

European Journal of Human Genetics, 2020

Kaynak: ORCID

A novel mutation in WDR62 gene in a patient who had autosomal recessive primary microcephaly with concomitant sarcoglycanopathy

European Journal of Human Genetics, 2020

Kaynak: ORCID

CYP4F22 gene mutations in patients with autosomal recessive congenital ichthyosis: Identification of two novel mutations

Turk Dermatoloji Dergisi, 2020

DOI 10.4103/tjd.tjd_91_20 Açık erişimli tam metinKaynak: ORCID

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2020

DOI 10.4274/jcrpe.galenos.2020.2019.0001 PMID 32295321 19 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome

Molecular Syndromology, 2020

DOI 10.1159/000504829 PMID 32021609 11 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study

Journal of Clinical Pediatric Dentistry, 2020

DOI 10.17796/1053-4625-44.4.8 PMID 33167018 7 atıf (Europe PMC) Kaynak: ORCID

Detection of SHOX Gene Variations in Patients Who Had Skeletal Abnormalities With/Without Short Stature

Journal of Clinical Research in Pediatric Endocrinology, 2020

DOI 10.4274/jcrpe.galenos.2020.2020.0001 Açık erişimli tam metinKaynak: OpenAlex

Acrocallosal Syndrome First Presenting with Acute Lymphoblastic Leukemia: A Rare Case Report

Neurology India, 2019

DOI 10.4103/0028-3886.271244 PMID 31744987 Kaynak: OpenAlex

Early Onset Monogenic Obesity: Two Cases with Homozygous Mutation in Lepr Gene

Hormone Research in Paediatrics, 2019

Kaynak: ORCID

The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome

Turkish Journal of Pediatrics, 2019

DOI 10.24953/turkjped.2019.04.017 PMID 31990478 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID