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Application of a practical amniotic membrane ring made on-site for restoration of ocular surface health in dry eye disease

Journal francais d'ophtalmologie, 2024-10, Vol.47 (8), p.104233, Article 104233

2024

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Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

Inflammatory bowel diseases, 2017-12, Vol.23 (12), p.2109-2120

2017

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Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann–Pick disease patients: Mutation profile and description of a novel mutation

Gene, 2013-09, Vol.526 (2), p.484-486

2013

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Nucleotide-resolution DNA double-strand break mapping by next-generation sequencing

Current opinion in genetics & development, 2013-04, Vol.10 (4), p.361-365

2013

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Three Different Classifications, B Lymphocyte Subpopulations, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) Gene Mutations, CTLA-4 and ICOS Gene Polymorphisms in Turkish Patients with Common Variable Immunodeficiency

Journal of clinical immunology, 2012-12, Vol.32 (6), p.1165-1179

2012

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A twin sibling with Prader-Willi syndrome caused by uniparental disomy conceived after in vitro fertilization

Genetic counseling, 2014-01, Vol.25 (4), p.433

2014

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Paralog Studies Augment Gene Discovery: DDX and DHX Genes

American journal of human genetics, 2019-08, Vol.105 (2), p.302-316

2019

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The corepressor CtBP2 is required for proper development of the mouse cerebral cortex

Molecular and cellular neuroscience, 2020-04, Vol.104, p.103481-103481, Article 103481

2020

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Subtelomeric rearrangements in patients with idiopathic intellectual disabilitiy/ multiple congenital anomalies and recurrent miscarriages: seven years' experience

Genetic counseling, 2013, Vol.24 (2), p.167

2013

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Testicular torsion in spinal cord injury: a case report

Spinal cord, 2016-02, Vol.54 (2), p.163-164

2016

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Do Elevated Serum IgM Levels Have to Be Included in Probable Diagnosis Criteria of Patients with Ataxia-Telangiectasia?

International journal of immunopathology and pharmacology, 2014-07, Vol.27 (3), p.421-427

2014

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Hyper-Immunoglobulin M Syndrome Type 3 with Normal CD40 Cell Surface Expression

Scandinavian journal of immunology, 2012-07, Vol.76 (1), p.21-25

2012

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A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity

Clinical immunology (Orlando, Fla.), 2014-08, Vol.153 (2), p.288-291

2014

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A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation

Genetic counseling, 2011, Vol.22 (1), p.25

2011

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Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation

Journal of investigational allergology & clinical immunology, 2016-01, Vol.26 (4), p.268-271

2016

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Common MEFV mutations and polymorphisms in an elderly population: an association with E148Q polymorphism and rheumatoid factor levels

Clinical and experimental rheumatology, 2009-03, Vol.27 (2), p.340

2009

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Immunoglobulin light chain levels can be used to determine disease stage in children with juvenile idiopathic arthritis

Clinical laboratory science, 2011, Vol.24 (2), p.93-98

2011

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A new case of Martsolf syndrome

Genetic counseling, 2007, Vol.18 (1), p.71

2007

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Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

Blood, 2024-06, Vol.143 (24), p.2504

2024

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EPIRETINAL MEMBRANES IN NEOVASCULAR AGE-RELATED MACULAR DEGENERATION: Effect on Outcomes of Anti-vascular Endothelial Growth Factor Therapy

Retina (Philadelphia, Pa.), 2015-08, Vol.35 (8), p.1540-1546

2015

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Cleidocranial dysplasia with new additional findings

Genetic counseling, 2004, Vol.15 (2), p.229

2004

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For outpatient rotator cuff surgery, nerve block anesthesia provides superior same-day recovery over general anesthesia

Anesthesiology (Philadelphia), 2005-05, Vol.102 (5), p.1001-1007

2005

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RBPJkappa-dependent signaling is essential for long-term maintenance of neural stem cells in the adult hippocampus

The Journal of neuroscience, 2010-10, Vol.30 (41), p.13794

2010

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A comparison of infraclavicular nerve block versus general anesthesia for hand and wrist day-case surgeries

Anesthesiology (Philadelphia), 2004-07, Vol.101 (1), p.127-132

2004

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The impact of the COVID-19 pandemic on adult bronchiectasis patients and the relationship between clinical parameters and bronchiectasis severity

European review for medical and pharmacological sciences, 2024-07, Vol.28 (13), p.3958

2024

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Application of a practical amniotic membrane ring made on-site for restoration of ocular surface health in dry eye disease

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann–Pick disease patients: Mutation profile and description of a novel mutation

Nucleotide-resolution DNA double-strand break mapping by next-generation sequencing

Three Different Classifications, B Lymphocyte Subpopulations, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) Gene Mutations, CTLA-4 and ICOS Gene Polymorphisms in Turkish Patients with Common Variable Immunodeficiency

A twin sibling with Prader-Willi syndrome caused by uniparental disomy conceived after in vitro fertilization

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

The corepressor CtBP2 is required for proper development of the mouse cerebral cortex

Subtelomeric rearrangements in patients with idiopathic intellectual disabilitiy/ multiple congenital anomalies and recurrent miscarriages: seven years' experience

Testicular torsion in spinal cord injury: a case report

Do Elevated Serum IgM Levels Have to Be Included in Probable Diagnosis Criteria of Patients with Ataxia-Telangiectasia?

Hyper-Immunoglobulin M Syndrome Type 3 with Normal CD40 Cell Surface Expression

A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity

A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation

Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation

Common MEFV mutations and polymorphisms in an elderly population: an association with E148Q polymorphism and rheumatoid factor levels

Immunoglobulin light chain levels can be used to determine disease stage in children with juvenile idiopathic arthritis

A new case of Martsolf syndrome

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

EPIRETINAL MEMBRANES IN NEOVASCULAR AGE-RELATED MACULAR DEGENERATION: Effect on Outcomes of Anti-vascular Endothelial Growth Factor Therapy

Cleidocranial dysplasia with new additional findings

For outpatient rotator cuff surgery, nerve block anesthesia provides superior same-day recovery over general anesthesia

RBPJkappa-dependent signaling is essential for long-term maintenance of neural stem cells in the adult hippocampus

A comparison of infraclavicular nerve block versus general anesthesia for hand and wrist day-case surgeries

The impact of the COVID-19 pandemic on adult bronchiectasis patients and the relationship between clinical parameters and bronchiectasis severity

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