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Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

Scientific reports, 2016-08, Vol.6 (1), p.31622-31622, Article 31622

2016

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Low levels of mannose-binding lectin confers protection against tuberculosis in Turkish children

European journal of clinical microbiology & infectious diseases, 2008-12, Vol.27 (12), p.1165-1169

2008

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THE SPECTRUM OF CLINICAL FEATURES ASSOCIATED WITH KLIPPEL-TRENAUNAY-WEBER SYNDROME

Genetic counseling, 2015-01, Vol.26 (2), p.249

2015

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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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Assessment of Toll-like receptor-4 gene polymorphism on pyelonephritis and renal scar

International journal of immunogenetics, 2012-08, Vol.39 (4), p.303-307

2012

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Lupus anticoagulant and protein S deficiency in otherwise healthy children with acute varicella infection

Acta Paediatrica, 2000-10, Vol.89 (10), p.1186-1189

2000

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A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS

Genetic counseling, 2016, Vol.27 (1), p.1

2016

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Multiple Pterygium Syndrome

Indian journal of pediatrics, 1997, Vol.64 (1), p.113-116

1997

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Long-term evaluation of chromosomal breakages after radioisotope synovectomy for treatment of target joints in patients with haemophilia

Haemophilia : the official journal of the World Federation of Hemophilia, 2010-05, Vol.16 (3), p.474-478

2010

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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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Ventricular septal defect in Crouzon Syndrome: case report

Genetic counseling, 2012-01, Vol.23 (4), p.519

2012

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Genome-wide copy number variation analysis in idiopathic intellectual disability/multiple congenital anomalies

Genetic counseling, 2014-01, Vol.25 (2), p.221

2014

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A case report on autosomal recessive Robinow syndrome

European journal of paediatric dentistry, 2009-09, Vol.10 (3), p.147

2009

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Multidrug Resistance 1 (MDR1) Gene Polymorphisms in Childhood Drug-Resistant Epilepsy

Journal of child neurology, 2010-12, Vol.25 (12), p.1485-1490

2010

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Chromosomal rearrangements in children with idiopathic mental retardation using subtelomeric fluorescent in situ hybridization

Genetic counseling, 2006, Vol.17 (3), p.321

2006

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A new case of Martsolf syndrome

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

2007

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Evaluation of the relationship between caries indices and salivary secretory IgA, salivary pH, buffering capacity and flow rate in children with Down's syndrome

Archives of oral biology, 2006, Vol.51 (1), p.23-28

2006

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Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family

Clinical genetics, 1996-06, Vol.49 (6), p.296-299

1996

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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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Dysosteosclerosis: a case with unique dental findings and SEM evaluation of a hypoplastic tooth

The Journal of clinical pediatric dentistry, 1999, Vol.23 (4), p.347

1999

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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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Exon-3 polymorphism of CTLA-4 gene in Turkish patients with vitiligo

Journal of dermatological science, 2005-06, Vol.38 (3), p.225-227

2005

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Evaluation of telomerase mRNA (hTERT) in childhood acute leukemia

Leukemia & lymphoma, 2004-12, Vol.45 (12), p.2477-2480

2004

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Might there be a link between mannose-binding lectin polymorphism and dental caries?

Molecular immunology, 2005-05, Vol.42 (9), p.1125-1127

2005

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The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey

Genetic testing and molecular biomarkers, 2009-04, Vol.13 (2), p.163-166

2009

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Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

Low levels of mannose-binding lectin confers protection against tuberculosis in Turkish children

THE SPECTRUM OF CLINICAL FEATURES ASSOCIATED WITH KLIPPEL-TRENAUNAY-WEBER SYNDROME

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

Assessment of Toll-like receptor-4 gene polymorphism on pyelonephritis and renal scar

Lupus anticoagulant and protein S deficiency in otherwise healthy children with acute varicella infection

A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS

Multiple Pterygium Syndrome

Long-term evaluation of chromosomal breakages after radioisotope synovectomy for treatment of target joints in patients with haemophilia

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

Ventricular septal defect in Crouzon Syndrome: case report

Genome-wide copy number variation analysis in idiopathic intellectual disability/multiple congenital anomalies

A case report on autosomal recessive Robinow syndrome

Multidrug Resistance 1 (MDR1) Gene Polymorphisms in Childhood Drug-Resistant Epilepsy

Chromosomal rearrangements in children with idiopathic mental retardation using subtelomeric fluorescent in situ hybridization

A new case of Martsolf syndrome

Evaluation of the relationship between caries indices and salivary secretory IgA, salivary pH, buffering capacity and flow rate in children with Down's syndrome

Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family

Evaluation of 80 children with prolonged fever

Dysosteosclerosis: a case with unique dental findings and SEM evaluation of a hypoplastic tooth

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

Exon-3 polymorphism of CTLA-4 gene in Turkish patients with vitiligo

Evaluation of telomerase mRNA (hTERT) in childhood acute leukemia

Might there be a link between mannose-binding lectin polymorphism and dental caries?

The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey

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