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Modelling scour and deposition in harbours due to complex tsunami‐induced currents

Earth surface processes and landforms, 2020-03, Vol.45 (4), p.978-998

2020

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Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

PloS one, 2015-11, Vol.10 (11), p.e0142154-e0142154

2015

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The 2015 landslide and tsunami in Taan Fiord, Alaska

Scientific reports, 2018-09, Vol.8 (1), p.12993-12, Article 12993

2018

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Fetal Gene Therapy Using a Single Injection of Recombinant AAV9 Rescued SMA Phenotype in Mice

Molecular therapy, 2019-12, Vol.27 (12), p.2123-2133

2019

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A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

Journal of clinical research in pediatric endocrinology, 2021-03, Vol.13 (1), p.52-60

2021

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Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals

Journal of clinical research in pediatric endocrinology, 2024-03, Vol.16 (1), p.76-83

2024

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

Journal of clinical research in pediatric endocrinology, 2020-11, Vol.12 (4), p.358-365

2020

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Specific early signs and long-term follow-up findings of Progressive Pseudorheumatoid Dysplasia (PPRD) in the Turkish cohort

Rheumatology (Oxford, England), 2022-08, Vol.61 (9), p.3693-3703

2022

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An approach for estimating the largest probable tsunami from far-field subduction zone earthquakes

Natural hazards (Dordrecht), 2017-10, Vol.89 (1), p.233-253

2017

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Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl

Journal of clinical research in pediatric endocrinology, 2024-09, Vol.16 (3), p.361-366

2024

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Propolis Extract Regulates microRNA Expression in Glioblastoma and Brain Cancer Stem Cells

Anti-cancer agents in medicinal chemistry, 2022, Vol.22 (2), p.378-389

2022

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An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1530-1545

2023

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Probabilistic Estimates of Tsunami Risk for Small Craft Marinas

Journal of waterway, port, coastal, and ocean engineering, 2021-01, Vol.147 (1)

2021

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Lagrangian flow measurements and observations of the 2015 Chilean tsunami in Ventura, CA

Geophysical research letters, 2016-05, Vol.43 (10), p.5217-5224

2016

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A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

Human genetics, 2013-11, Vol.132 (11), p.1311-1320

2013

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A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant

Turkish journal of pediatrics, 2022-07, Vol.64 (4), p.736-740

2022

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Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations

Gene, 2018-01, Vol.641, p.186-189

2018

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The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum

Journal of Pediatric Endocrinology and Metabolism, 2021-04, Vol.34 (4), p.417-430

2021

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What is the Role of Mannose-Binding Lectin Gene Polymorphism in the Development of Acute Post-Streptococcal Glomerulonephritis?

Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi, 2021-01

2021

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An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission

Case reports in immunology, 2023, Vol.2023, p.2363760-6

2023

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Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure

Reproductive biology, 2020-03, Vol.20 (1), p.42-47

2020

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Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference

Clinical case reports, 2021-04, Vol.9 (4), p.2023-2031

2021

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Combined immunodeficiency with marginal zone lymphoma due to a novel homozygous mutation in IL-21R gene and successful treatment with hematopoietic stem cell transplantation

Pediatric hematology and oncology, 2021-11, Vol.38 (8), p.745-752

2021

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HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis

British journal of haematology, 2017-05, Vol.177 (4), p.597-600

2017

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SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100657-100657, Article 100657

2020

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Modelling scour and deposition in harbours due to complex tsunami‐induced currents

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

The 2015 landslide and tsunami in Taan Fiord, Alaska

Fetal Gene Therapy Using a Single Injection of Recombinant AAV9 Rescued SMA Phenotype in Mice

A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals

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

Specific early signs and long-term follow-up findings of Progressive Pseudorheumatoid Dysplasia (PPRD) in the Turkish cohort

An approach for estimating the largest probable tsunami from far-field subduction zone earthquakes

Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl

Propolis Extract Regulates microRNA Expression in Glioblastoma and Brain Cancer Stem Cells

An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant

Probabilistic Estimates of Tsunami Risk for Small Craft Marinas

Lagrangian flow measurements and observations of the 2015 Chilean tsunami in Ventura, CA

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant

Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations

The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum

What is the Role of Mannose-Binding Lectin Gene Polymorphism in the Development of Acute Post-Streptococcal Glomerulonephritis?

An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission

Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure

Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference

Combined immunodeficiency with marginal zone lymphoma due to a novel homozygous mutation in IL-21R gene and successful treatment with hematopoietic stem cell transplantation

HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

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