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Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?

Balkan journal of medical genetics, 2023-12, Vol.26 (2), p.51-58

2023

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Hereditary inclusion body myopathy in Turkish sisters with a novel mutation in the GNE gene

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S170-S170

2016

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Nephron-sparing Surgery for Renal Cell Carcinoma of the Allograft After Renal Transplantation: Report of Two Cases

Transplantation proceedings, 2013-04, Vol.45 (3), p.958-960

2013

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Clinical, molecular, radiological investigations in patients with SURF1 mutations and muscle biopsy findings

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S174-S174

2016

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Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography

Genetic counseling, 2013-01, Vol.24 (3), p.319

2013

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P109 – 2442: Infantile neuroaxonal dystrophy: A new mutation

European journal of paediatric neurology, 2015-05, Vol.19, p.S125-S125

2015

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A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings

Genetic counseling, 2015, Vol.26 (1), p.47

2015

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REVERSIBLE CLINICAL AND MAGNETIC RESONANCE IMAGING FINDINGS IN LATE-ONSET COBALAMIN C DEFECT

Genetic counseling, 2015-01, Vol.26 (4), p.425

2015

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PP05.8 – 2528: Early-onset mild type leukoencephalopathy caused by a homozygous EARS2 mutation

European journal of paediatric neurology, 2015-05, Vol.19, p.S48-S48

2015

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P85 – 2818: Nonketotic hyperglycinemia: A cause of severe epileptic encephalopathy and hypotonia in children

European journal of paediatric neurology, 2015-05, Vol.19, p.S118-S118

2015

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High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

Clinical genetics, 2012-06, Vol.81 (6), p.598-601

2012

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O191 ARE ENDOTHELIAL NITRIC OXIDE SYNTHASE GENE −894 G>T AND 786 T>C POLYMORPHISMS RISK FACTORS FOR ENDOMETRIOSIS?

International journal of gynecology and obstetrics, 2012-10, Vol.119 (S3), p.S327-S328

2012

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Acromesomelic dysplasia with cardiac and neurologic abnormalities: an association by chance, new features of maroteaux type or a new syndrome?

Genetic counseling, 2013, Vol.24 (1), p.75

2013

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Single median maxillary central incisor syndrome and its clinical importance

Genetic counseling, 2014-01, Vol.25 (4), p.453

2014

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CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE

Genetic counseling, 2015-01, Vol.26 (4), p.409

2015

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A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?

Genetic counseling, 2012-01, Vol.23 (2), p.185

2012

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Ovulation induction with gonadotropins causes increased sister chromatid exchanges

Genetic counseling, 2011-01, Vol.22 (2), p.193

2011

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A 7q11.23 microduplication patient with cerebral palsy and facial dysmorphism

Genetic counseling, 2012-01, Vol.23 (2), p.263

2012

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Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies

Genetic counseling, 2010, Vol.21 (1), p.19

2010

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P01.33: Volume of sampled amniotic fluid and prenatal cytogenetic diagnosis: results of retrospective study

Ultrasound in obstetrics & gynecology, 2006-09, Vol.28 (4), p.520-520

2006

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P01.43: Prenatal diagnosis of a case with EMANUEL syndrome (supernumary der (22) syndrome)

Ultrasound in obstetrics & gynecology, 2006-09, Vol.28 (4), p.522-522

2006

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Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Blood, 2020-12, Vol.136 (23), p.2638-2655

2020

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P354 Deoxynucleoside therapy for late onset thymidine kinase 2 deficiency patients

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S184-S184

2023

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Carbamazepine use in pregnancy and coincidental thalidomide-like phocomelia in a newborn

Journal of obstetrics and gynaecology, 2012-07, Vol.32 (5), p.488-489

2012

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A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome

Genetic counseling, 2011, Vol.22 (1), p.21

2011

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Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?

Hereditary inclusion body myopathy in Turkish sisters with a novel mutation in the GNE gene

Nephron-sparing Surgery for Renal Cell Carcinoma of the Allograft After Renal Transplantation: Report of Two Cases

Clinical, molecular, radiological investigations in patients with SURF1 mutations and muscle biopsy findings

Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography

P109 – 2442: Infantile neuroaxonal dystrophy: A new mutation

A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings

REVERSIBLE CLINICAL AND MAGNETIC RESONANCE IMAGING FINDINGS IN LATE-ONSET COBALAMIN C DEFECT

PP05.8 – 2528: Early-onset mild type leukoencephalopathy caused by a homozygous EARS2 mutation

P85 – 2818: Nonketotic hyperglycinemia: A cause of severe epileptic encephalopathy and hypotonia in children

High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

O191 ARE ENDOTHELIAL NITRIC OXIDE SYNTHASE GENE −894 G>T AND 786 T>C POLYMORPHISMS RISK FACTORS FOR ENDOMETRIOSIS?

Acromesomelic dysplasia with cardiac and neurologic abnormalities: an association by chance, new features of maroteaux type or a new syndrome?

Single median maxillary central incisor syndrome and its clinical importance

CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE

A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?

Ovulation induction with gonadotropins causes increased sister chromatid exchanges

A 7q11.23 microduplication patient with cerebral palsy and facial dysmorphism

Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies

P01.33: Volume of sampled amniotic fluid and prenatal cytogenetic diagnosis: results of retrospective study

P01.43: Prenatal diagnosis of a case with EMANUEL syndrome (supernumary der (22) syndrome)

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

P354 Deoxynucleoside therapy for late onset thymidine kinase 2 deficiency patients

Carbamazepine use in pregnancy and coincidental thalidomide-like phocomelia in a newborn

A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome

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