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Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

Clinical genetics, 2017-06, Vol.91 (6), p.868-880

2017

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Selective IgM deficiency in a boy with ring chromosome 18

Journal of investigational allergology & clinical immunology, 2014, Vol.24 (6), p.442-444

2014

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A MOLECULARLY CHARACTERIZED INTERSTITIAL DELETION ENCOMPASSING THE 11q14.1-q23.3 REGION IN A CASE WITH MULTIPLE CONGENITAL ABNORMALITIES

Genetic counseling, 2016, Vol.27 (1), p.51

2016

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Orthostatic heart rate variability analysis in idiopathic Parkinson's disease

Acta neurologica Scandinavica, 2006-05, Vol.113 (5), p.288-293

2006

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22q11.2 syndrome due to maternal translocation t(18;22) (pl1.2;q11.2)

Genetic counseling, 2015, Vol.26 (1), p.67

2015

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35 Cystic fibrosis transmembrane regulator mutations in Turkish patients with cystic fibrosis

Journal of cystic fibrosis, 2014-06, Vol.13, p.S55-S55

2014

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C.428_451 dup(24bp) mutation of the ARX gene detected in a Turkish family

Genetic counseling, 2012-01, Vol.23 (3), p.367

2012

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Double partial trisomy of 6p23-pter and 9pter-q21.2 in a neonate resulting from 4:2 meiotic segregation of a maternal complex t(6;7;9)(p23;p15;q21.2) translocation

Genetic counseling, 2012-01, Vol.23 (2), p.239

2012

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Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutations

Clinical and experimental dermatology, 2008-09, Vol.33 (5), p.582-584

2008

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Interstitial deletion of 13q22-q32: a case with choanal atresia and mega-cisterna magna and review of the literature

Genetic counseling, 2011, Vol.22 (3), p.313

2011

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Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

Journal of bone and mineral research, 2003-10, Vol.18 (10), p.1740-1747

2003

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Molecular analysis of fragile X syndrome in Antalya Province

Indian journal of medical sciences, 2005-04, Vol.59 (4), p.150-155

2005

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Mercury Poisoning as a Cause of Intracranial Hypertension

Journal of child neurology, 2015-05, Vol.30 (6), p.760-763

2015

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Enhanced cued recall has a high utility as a screening test in the diagnosis of Alzheimer's disease and mild cognitive impairment in Turkish people

Archives of clinical neuropsychology, 2006-10, Vol.21 (7), p.745-751

2006

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Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2311-2315

2013

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Prévention secondaire après syndrome coronaire aigu sans sus-décalage de ST en fonction de l'utilisation de l'angioplastie coronaire : l'étude S-Témoin

Annales de cardiologie et d'angéiologie, 2007, Vol.56 (1), p.30-35

2007

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Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features

Genetic counseling, 2005, Vol.16 (2), p.129

2005

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Interleukin-1β, Tumor Necrosis Factor-α, and Nitrite Levels in Febrile Seizures

Journal of child neurology, 2002-10, Vol.17 (10), p.749-751

2002

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Tertiary trisomy of 10p15.pter and 14pter.ql3 due to maternal translocation t(10;14)(p15;q13)

Genetic counseling, 2012, Vol.23 (2), p.207

2012

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Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth

Nigerian journal of clinical practice, 2015-07, Vol.18 (4), p.559-562

2015

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P4-136: Parkinsonism is associated with probable REM sleep behavior disorder in cognitively normal elderly subjects: The Mayo Clinic Study of Aging

Alzheimer's & dementia, 2008-07, Vol.4 (4), p.T710-T710

2008

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Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome

Balkan journal of medical genetics, 2012-01, Vol.15 (1), p.61-64

2012

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Orthostatic heart rate variability analysis in idiopathic Parkinson's disease: Orthostatic HRV analysis: Parkinson's disease

Acta neurologica Scandinavica, 2006-05, Vol.113 (5), p.288-293

2006

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Evaluation of a Fetus with Neu-Laxova Syndrome through Prenatal, Clinical, and Pathological Findings

Fetal diagnosis and therapy, 2005-05, Vol.20 (3), p.167-170

2005

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Currarino syndrome associated with penoscrotal inversion and perineal fissure

Pediatric surgery international, 2005-09, Vol.21 (9), p.733-735

2005

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Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

Selective IgM deficiency in a boy with ring chromosome 18

A MOLECULARLY CHARACTERIZED INTERSTITIAL DELETION ENCOMPASSING THE 11q14.1-q23.3 REGION IN A CASE WITH MULTIPLE CONGENITAL ABNORMALITIES

Orthostatic heart rate variability analysis in idiopathic Parkinson's disease

22q11.2 syndrome due to maternal translocation t(18;22) (pl1.2;q11.2)

35 Cystic fibrosis transmembrane regulator mutations in Turkish patients with cystic fibrosis

C.428_451 dup(24bp) mutation of the ARX gene detected in a Turkish family

Double partial trisomy of 6p23-pter and 9pter-q21.2 in a neonate resulting from 4:2 meiotic segregation of a maternal complex t(6;7;9)(p23;p15;q21.2) translocation

Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutations

Interstitial deletion of 13q22-q32: a case with choanal atresia and mega-cisterna magna and review of the literature

Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

Molecular analysis of fragile X syndrome in Antalya Province

Mercury Poisoning as a Cause of Intracranial Hypertension

Enhanced cued recall has a high utility as a screening test in the diagnosis of Alzheimer's disease and mild cognitive impairment in Turkish people

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome

Prévention secondaire après syndrome coronaire aigu sans sus-décalage de ST en fonction de l'utilisation de l'angioplastie coronaire : l'étude S-Témoin

Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features

Interleukin-1β, Tumor Necrosis Factor-α, and Nitrite Levels in Febrile Seizures

Tertiary trisomy of 10p15.pter and 14pter.ql3 due to maternal translocation t(10;14)(p15;q13)

Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth

P4-136: Parkinsonism is associated with probable REM sleep behavior disorder in cognitively normal elderly subjects: The Mayo Clinic Study of Aging

Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome

Orthostatic heart rate variability analysis in idiopathic Parkinson's disease: Orthostatic HRV analysis: Parkinson's disease

Evaluation of a Fetus with Neu-Laxova Syndrome through Prenatal, Clinical, and Pathological Findings

Currarino syndrome associated with penoscrotal inversion and perineal fissure

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