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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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Evaluation of lower urinary tract symptoms in children with Down syndrome: A prospective, case‐controlled cohort study

Neurourology and urodynamics, 2020-02, Vol.39 (2), p.833-840

2020

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Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages

Scandinavian journal of immunology, 2019-02, Vol.89 (2), p.e12737-n/a

2019

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Role of angiotensin-converting enzyme gene polymorphisms in children with sepsis and septic shock

Pediatrics international, 2008-08, Vol.50 (4), p.477-480

2008

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A unique case of thrombophilia: the role of F9 gene duplication and increased factor IX activity in cerebral venous thrombosis

Journal of thrombosis and haemostasis, 2023-10, Vol.21 (10), p.2913-2916

2023

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A rare cause of syndromic short stature: 3M syndrome in three families

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.461-468

2021

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Evaluation of 80 children with prolonged fever

Pediatrics international, 2003-10, Vol.45 (5), p.564-569

2003

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Clinical and molecular aspects of PTEN mutations in 10 pediatric patients

Annals of human genetics, 2020-07, Vol.84 (4), p.324-330

2020

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A new patient with LACHT syndrome (Mardini-Nyhan association)

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.400-402

2015

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Celiac disease in children with Down syndrome: Importance of follow-up and serologic screening

Pediatrics international, 2003-08, Vol.45 (4), p.395-399

2003

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MicroRNA expression profiling in children with different asthma phenotypes

Pediatric pulmonology, 2016-06, Vol.51 (6), p.582-587

2016

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The Association of minor congenital anomalies and childhood cancer

Pediatric blood & cancer, 2011-07, Vol.56 (7), p.1098-1102

2011

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A case of epicanthus, telecanthus, high palate, transitional vertebra associated with vesicoureteral reflux

Acta Paediatrica, 2007-01, Vol.96 (1), p.147-148

2007

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Reasons for Adult Referrals for Genetic Counseling at a Genetics Center in Izmir, Turkey: Analysis of 8965 Cases over an Eleven-Year Period

Journal of genetic counseling, 2011-06, Vol.20 (3), p.287-293

2011

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Ring chromosome 20 syndrome with intractable epilepsy

Developmental medicine and child neurology, 2005-05, Vol.47 (5), p.343-346

2005

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Ring chromosome 20 syndrome with intractable epilepsy

Developmental medicine and child neurology, 2005-05, Vol.47 (5), p.343-346

2005

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Mandibuloacral dysplasia with absent breast development

American journal of medical genetics, 2003-06, Vol.119A (3), p.391-392

2003

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A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II

American journal of medical genetics, 2005-02, Vol.133A (1), p.101-102

2005

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A unique case of thrombophilia: the role of F9 gene duplication and increased factor IX activity in cerebral venous thrombosis

Journal of thrombosis and haemostasis : JTH, 2023, Vol.21 (10), p.2913-2916

2023

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Prenatal detection of a pure trisomy 10p case

Prenatal diagnosis, 2003-04, Vol.23 (4), p.356-358

2003

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Sliding type hernia and ectopic pancreatic tissue in the stomach with renal agenesis and ear abnormalities: Branchio-oto-renal syndrome or hemifacial microsomia with additional findings

American journal of medical genetics, 2003-08, Vol.120A (4), p.562-563

2003

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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, Vol.9 (4), p.2023-2031

2021

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A Unique Case of Thrombophilia: The Role of F9 Gene Duplication and Increased FIX Activity in Cerebral Venous Thrombosis

Journal of thrombosis and haemostasis, 2023-07

2023

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Cerebro‐costo‐mandibular syndrome: A case report

Pediatrics international, 2001-10, Vol.43 (5), p.522-524, Article 522

2001

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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

Evaluation of lower urinary tract symptoms in children with Down syndrome: A prospective, case‐controlled cohort study

Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages

Role of angiotensin-converting enzyme gene polymorphisms in children with sepsis and septic shock

A unique case of thrombophilia: the role of F9 gene duplication and increased factor IX activity in cerebral venous thrombosis

A rare cause of syndromic short stature: 3M syndrome in three families

Evaluation of 80 children with prolonged fever

Clinical and molecular aspects of PTEN mutations in 10 pediatric patients

Identification of the molecular etiology in rare congenital hemolytic anemias using next‐generation sequencing with exome‐based copy number variant analysis

A new patient with LACHT syndrome (Mardini-Nyhan association)

Celiac disease in children with Down syndrome: Importance of follow-up and serologic screening

MicroRNA expression profiling in children with different asthma phenotypes

The Association of minor congenital anomalies and childhood cancer

A case of epicanthus, telecanthus, high palate, transitional vertebra associated with vesicoureteral reflux

Reasons for Adult Referrals for Genetic Counseling at a Genetics Center in Izmir, Turkey: Analysis of 8965 Cases over an Eleven-Year Period

Ring chromosome 20 syndrome with intractable epilepsy

Ring chromosome 20 syndrome with intractable epilepsy

Mandibuloacral dysplasia with absent breast development

A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II

A unique case of thrombophilia: the role of F9 gene duplication and increased factor IX activity in cerebral venous thrombosis

Prenatal detection of a pure trisomy 10p case

Sliding type hernia and ectopic pancreatic tissue in the stomach with renal agenesis and ear abnormalities: Branchio-oto-renal syndrome or hemifacial microsomia with additional findings

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

A Unique Case of Thrombophilia: The Role of F9 Gene Duplication and Increased FIX Activity in Cerebral Venous Thrombosis

Cerebro‐costo‐mandibular syndrome: A case report

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