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Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder

Pediatrics (Evanston), 2020-11, Vol.146 (5), p.e20193460

2020

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A variety of abnormal movements in 13 cases with nutritional cobalamin deficiency in infants

Medical hypotheses, 2020-09, Vol.142, p.109796-109796, Article 109796

Yaramis, Ahmet

2020

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Severe neurodevelopmental disease caused by a homozygous TLK2 variant

European journal of human genetics : EJHG, 2020-03, Vol.28 (3), p.383-387

2020

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Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

iScience, 2021-01, Vol.24 (1), p.101948-101948, Article 101948

2021

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Brainstem involvement in subacute sclerosing panencephalitis

Turkish journal of pediatrics, 2010-09, Vol.52 (5), p.542-545

2010

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Nutritional megaloblastic anemia in young Turkish children is associated with vitamin B-12 deficiency and psychomotor retardation

Journal of pediatric hematology/oncology, 2006-09, Vol.28 (9), p.559-562

2006

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Clinical features of nine patients with alternating hemiplegia of childhood

Journal of paediatrics and child health, 2011-10, Vol.47 (10), p.734-736

2011

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Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

Brain (London, England : 1878), 2016-08, Vol.139 (Pt 8), p.2143-2153

2016

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High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Brain (London, England : 1878), 2022-05, Vol.145 (4), p.1507-1518

2022

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Cerebral vasculitis and obsessive-compulsive disorder following varicella infection in childhood

Turkish journal of pediatrics, 2009-01, Vol.51 (1), p.72-75

2009

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Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

Genetics in medicine, 2016-06, Vol.18 (6), p.600-607

2016

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Central nervous system tuberculosis in children: a review of 214 cases

Pediatrics (Evanston), 1998-11, Vol.102 (5), p.E49

1998

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Chest computerized tomography scan findings in 74 children with tuberculous meningitis in southeastern Turkey

Turkish journal of pediatrics, 2007-10, Vol.49 (4), p.365-369

2007

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Infantile iatrogenic cushing′s syndrome

Indian journal of dermatology, 2008, Vol.53 (4), p.190-191

2008

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Infantile iatrogenic Cushing's syndrome

Indian journal of dermatology, 2008-10, Vol.53 (4), p.190-191

2008

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A randomized trial of granulocyte-macrophage colony-stimulating factor in neonates with sepsis and neutropenia

Pediatrics (Evanston), 2001-01, Vol.107 (1), p.36

2001

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Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study

Neuropediatrics, 2023-08, Vol.54 (4), p.225

2023

Volltextzugriff (PDF)

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

The Journal of molecular diagnostics : JMD, 2020-09, Vol.22 (9), p.1205-1215

2020

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Role and Clinical Significance of Plasma N-Terminal Brain Natriuretic Peptide Measurement in Children with Brain Edema

Neuropediatrics, 2016-01, Vol.47 (1), p.20

2016

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COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children

Neurology. Genetics, 2020-02, Vol.6 (1), p.e392-e392

2020

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Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

Journal of neuromuscular diseases, 2020-01, Vol.7 (3), p.301-308

2020

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A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing Panencephalitis

Neuropediatrics, 2015-12, Vol.46 (6), p.377

2015

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Cranial magnetic resonance imaging findings of nutritional Vitamin B12 deficiency in 15 hypotonic infants

European journal of paediatric neurology, 2012-05, Vol.16 (3), p.266-270

2012

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A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review

Turkish journal of pediatrics, 2020-01, Vol.62 (1), p.109-113

2020

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A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review

Turkish journal of pediatrics, 2020, Vol.62 (1), p.109

2020

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Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder

A variety of abnormal movements in 13 cases with nutritional cobalamin deficiency in infants

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

Brainstem involvement in subacute sclerosing panencephalitis

Nutritional megaloblastic anemia in young Turkish children is associated with vitamin B-12 deficiency and psychomotor retardation

Clinical features of nine patients with alternating hemiplegia of childhood

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Cerebral vasculitis and obsessive-compulsive disorder following varicella infection in childhood

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

Central nervous system tuberculosis in children: a review of 214 cases

Chest computerized tomography scan findings in 74 children with tuberculous meningitis in southeastern Turkey

Infantile iatrogenic cushing′s syndrome

Infantile iatrogenic Cushing's syndrome

A randomized trial of granulocyte-macrophage colony-stimulating factor in neonates with sepsis and neutropenia

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Role and Clinical Significance of Plasma N-Terminal Brain Natriuretic Peptide Measurement in Children with Brain Edema

COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing Panencephalitis

Cranial magnetic resonance imaging findings of nutritional Vitamin B12 deficiency in 15 hypotonic infants

A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review

A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review

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