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Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease

European journal of clinical investigation, 2009-04, Vol.39 (4), p.311-319

2009

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Mutations of chronic granulomatous disease in Turkish families

European journal of clinical investigation, 2007-07, Vol.37 (7), p.589-595

2007

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Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations

European journal of clinical investigation, 2009-10, Vol.39 (10), p.942-951

2009

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Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing

Scandinavian journal of immunology, 2017-03, Vol.85 (3), p.227-234

2017

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Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences

American journal of human genetics, 1999-06, Vol.64 (6), p.1617-1631

1999

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Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family

European journal of clinical investigation, 2006-04, Vol.36 (4), p.257-264

2006

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Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia

Cell death and differentiation, 2011-09, Vol.18 (9), p.1500-1506

2011

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Course of IL-2-inducible T-cell kinase deficiency in a family: lymphomatoid granulomatosis, lymphoma and allogeneic bone marrow transplantation in one sibling; and death in the other

Bone marrow transplantation (Basingstoke), 2017-01, Vol.52 (1), p.126-129

2017

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Clinical and genetic features of the patients with X‐Linked agammaglobulinemia from Turkey: Single‐centre experience

Scandinavian journal of immunology, 2018-03, Vol.87 (3), p.n/a

2018

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Screw fixation is superior to N-butyl-2-cyanoacrylate in onlay grafting procedure: a histomorphologic study

International journal of oral and maxillofacial surgery, 2012-04, Vol.41 (4), p.537-543

2012

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H2AX gene does not have a modifier effect on ataxia-telangiectasia phenotype

International journal of immunogenetics, 2011-06, Vol.38 (3), p.209-213

2011

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Chronic granulomatous disease presenting with hypogammaglobulinemia

Journal of investigational allergology & clinical immunology, 2011, Vol.21 (4), p.310-312

2011

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Cernunnos deficiency: a case report

Journal of investigational allergology & clinical immunology, 2011, Vol.21 (4), p.313-316

2011

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Reduced memory B cells in patients with hyper IgE syndrome

Clinical immunology (Orlando, Fla.), 2008-12, Vol.129 (3), p.448-454

2008

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Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene

Nature genetics, 1997-07, Vol.16 (3), p.289-292

1997

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European internet-based patient and research database for primary immunodeficiencies: results 2006-2008

Clinical and experimental immunology, 2009-09, Vol.157 (Supplement_1), p.3-11

2009

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Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease

Journal of medical genetics, 2011-08, Vol.48 (8), p.567-571

2011

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Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

Haematologica (Roma), 2015-06, Vol.100 (6), p.e216-e219

2015

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Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly

Cell, 2006-01, Vol.124 (2), p.287-299

2006

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Assessment of repeatability and reproducibility of mental and panoramic mandibular indices on digital panoramic images

International dental journal, 2007-12, Vol.57 (6), p.433-438

2007

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Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

The Journal of clinical investigation, 2003-08, Vol.112 (3), p.450-456

2003

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Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency

Cell, 2001-04, Vol.105 (2), p.177-186

2001

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Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Cell, 2000-09, Vol.102 (5), p.565-575

2000

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Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene

Immunogenetics (New York), 2000-01, Vol.51 (1), p.42-49

2000

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Subcutaneous nodules as presenting sign of disseminated BCG infection in a SCID patient

Infection, 1999, Vol.27 (4-5), p.293-294

1999

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Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease

Mutations of chronic granulomatous disease in Turkish families

Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations

Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing

Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences

Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family

Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia

Course of IL-2-inducible T-cell kinase deficiency in a family: lymphomatoid granulomatosis, lymphoma and allogeneic bone marrow transplantation in one sibling; and death in the other

Clinical and genetic features of the patients with X‐Linked agammaglobulinemia from Turkey: Single‐centre experience

Screw fixation is superior to N-butyl-2-cyanoacrylate in onlay grafting procedure: a histomorphologic study

H2AX gene does not have a modifier effect on ataxia-telangiectasia phenotype

Chronic granulomatous disease presenting with hypogammaglobulinemia

Cernunnos deficiency: a case report

Reduced memory B cells in patients with hyper IgE syndrome

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene

European internet-based patient and research database for primary immunodeficiencies: results 2006-2008

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly

Assessment of repeatability and reproducibility of mental and panoramic mandibular indices on digital panoramic images

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene

Subcutaneous nodules as presenting sign of disseminated BCG infection in a SCID patient

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