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Chapter 9 - Next Generation Sequencing as a Tool for Noninvasive Prenatal Tests

Clinical Applications for Next-Generation Sequencing, 2016, p.171-188

Cogulu, Ozgur

2016

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NEXT GENERATION SEQUENCING AS A TOOL FOR NONINVASIVE PRENATAL TESTS

Clinical Applications for Next-Generation Sequencing, 2015

2015

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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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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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Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy

Journal of Neurogenetics, 2021, Vol.35 (1), p.23-28

2021

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An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation

Case reports in immunology, 2018, Vol.2018, p.6897935-6897935

2018

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Immunodeficiency in a Child with Alström Syndrome

Indian journal of pediatrics, 2018, Vol.85 (10), p.924-926

2018

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Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome

JMM case reports, 2018, Vol.5 (10), p.e005167-e005167

2018

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Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency

The Journal of allergy and clinical immunology, 2016, Vol.138 (6), p.1744-1747.e5

2016

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

Acta paediatrica (Oslo, Norway : 1992), 2007, Vol.96 (1), p.147-148

2007

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Demonstration of uniparental-isodisomy on chromosome 22q11.2 in a patient with childhood schizophrenia and facial dysmorphology by whole-genome analysis

The Journal of neuropsychiatry and clinical neurosciences, 2012, Vol.24 (1), p.E13-E14

2012

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A further Turkish case of Griscelli syndrome with new RAB27A mutation

Journal of the American Academy of Dermatology, 2008, Vol.58 (5 Suppl 1), p.S115-S116

2008

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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. Part A, 2003, Vol.120A (4), p.562-563

2003

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Prenatal detection of a pure trisomy 10p case

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

2003

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

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

2005

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Mandibuloacral dysplasia with absent breast development

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

2003

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The second case with 47, XY, + 8 [38] / 45, X0

The Turkish journal of pediatrics, 2002, Vol.44 (1), p.86-89

2002

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Cerebro-costo-mandibular syndrome: A case report

Pediatrics International, 2001, Vol.43 (5), p.522-524

2001

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Chapter 9 - Next Generation Sequencing as a Tool for Noninvasive Prenatal Tests

NEXT GENERATION SEQUENCING AS A TOOL FOR NONINVASIVE PRENATAL TESTS

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

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

Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy

An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation

Immunodeficiency in a Child with Alström Syndrome

Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome

Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency

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

Demonstration of uniparental-isodisomy on chromosome 22q11.2 in a patient with childhood schizophrenia and facial dysmorphology by whole-genome analysis

A further Turkish case of Griscelli syndrome with new RAB27A mutation

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

Prenatal detection of a pure trisomy 10p case

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

Mandibuloacral dysplasia with absent breast development

The second case with 47, XY, + 8 [38] / 45, X0

Cerebro-costo-mandibular syndrome: A case report

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