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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

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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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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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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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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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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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COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children

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

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, 2020-01, 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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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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Osmanlı Devleti’nde Miladi Esaslı Takvim; Takvim-î Garbî’nin Kabulü

Turkish studies (2006), 2019, Vol.14 Issue 3 (Volume 14 Issue 3), p.1897-1915

YARAMIŞ, Sibel YAZICI- Ahmet

2019

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Characteristics of pediatric multiple sclerosis: The Turkish pediatric multiple sclerosis database

European journal of paediatric neurology, 2017-11, Vol.21 (6), p.864-872

2017

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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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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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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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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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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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Brainstem involvement in subacute sclerosing panencephalitis

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

2010

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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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Infantile iatrogenic Cushing's syndrome

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

2008

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

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

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

Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder

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

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

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children

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

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

Osmanlı Devleti’nde Miladi Esaslı Takvim; Takvim-î Garbî’nin Kabulü

Characteristics of pediatric multiple sclerosis: The Turkish pediatric multiple sclerosis database

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

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

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

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

Clinical features of nine patients with alternating hemiplegia of childhood

Brainstem involvement in subacute sclerosing panencephalitis

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

Infantile iatrogenic Cushing's syndrome

Infantile iatrogenic cushing′s syndrome

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

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

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