F. M. Sonmez

发表

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Vineet Bafna, Nitin Udpa, Carrie Sougnez, 2012, Science Translational Medicine.

The effects of topiramate and valproate therapy on insulin, c-peptide, leptin, neuropeptide Y, adiponectin, visfatin, and resistin levels in children with epilepsy

O. Değer, F. M. Sonmez, A. Aksoy, 2013, Seizure.

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

A. Schlessinger, A. Caglayan, M. Topcu, 2016, Cell.

Parental‐reported drug allergy in 6‐ to 9‐yr‐old urban schoolchildren

M. Çakır, Y. Gedik, F. M. Sonmez, 2007, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Henoch-Schönlein purpura in north-eastern Turkey

M. Çakır, A. Okten, M. Kalyoncu, 2006, Annals of tropical paediatrics.

Insomnia, parasomnia, and predisposing factors in Turkish school children

M. Topbaş, F. M. Sonmez, G. Çan, 2016, Pediatrics international : official journal of the Japan Pediatric Society.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

R. Finkel, P. Bauer, M. Baudis, 2013, Brain : a journal of neurology.

Vitamin D status in children with headache: A case-control study.

F. M. Sonmez, A. Donmez, E. Orun, 2017, Clinical nutrition ESPEN.

Severe Form of Cockayne Syndrome With Varying Clinical Presentation and No Photosensitivity in a Family

S. Uǧur, F. M. Sonmez, F. Celep, 2006, Journal of child neurology.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

An atypical case of pantothenate kinase-associated neurodegeneration (PKAN) initially presenting with stammering and speech disorder

F. M. Sonmez, H. Aydın, S. Ceylaner, 2015 .

The Role of the Vitamin D in Neurology: Interrelationships Between Headache, Epilepsy and Vitamin D Deficiency

F. M. Sonmez, 2016 .

Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene.

Hüseyin Demirci, M. Gunduz, F. M. Sonmez, 2016, Intractable & rare diseases research.

Vitamin D Deficiency in Children With Newly Diagnosed Idiopathic Epilepsy

F. M. Sonmez, M. Canbal, M. Namuslu, 2015, Journal of child neurology.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

Complementary and alternative medicine use in Turkish children with epilepsy.

M. Çakır, F. M. Sonmez, Z. Goker, 2012, Complementary therapies in medicine.

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

Martin W. Breuss, J. Gleeson, H. Topaloglu, 2021, European Journal of Human Genetics.

Cerebral sinovenous thrombosis associated with MTHFR A1298C mutation in the newborn: a case report

M. K. Kanburoglu, A. Z. Akelma, M. Tatlı, 2013, Journal of Thrombosis and Thrombolysis.

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

S. Gabriel, E. Nickerson, R. Naviaux, 2013, Cell.

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

A. Munnich, A. Saiardi, N. Boddaert, 2020, Nature Communications.

Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy.

M. Alikaşifoğlu, F. M. Sonmez, Fatma Mujgan Sonmez, 2017, Intractable & rare diseases research.

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

F. Alkuraya, J. Gleeson, F. Al-Mohanna, 2019, American journal of human genetics.

[Borderline cerebellar tonsillar ectopia in a child with headache. Case report].

M. K. Kanburoglu, F. M. Sonmez, D. Kosehan, 2013, Archivos argentinos de pediatria.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

A Turkish Case of Wolman Disease with Microcephaly

E. Erduran, F. M. Sonmez, Suzan Gündüz, 2013 .

Multiloculated hydrocephalus of intrauterine-onset: a case report of an unexpected MTHFR A1298C positive test result.

F. M. Sonmez, D. Kosehan, I. Kutukoglu, 2013, Genetic counseling.

Methylphenidate-Induced Acute Orofacial and Extremity Dyskinesia

F. M. Sonmez, B. Isık, E. Orun, 2013, Journal of Child Neurology.

Blood levels of cytokines in children with idiopathic partial and generalized epilepsy

A. Cansu, A. Alver, F. M. Sonmez, 2013, Seizure.

The Very Low Density Lipoprotein Receptor–Associated Pontocerebellar Hypoplasia and Dysmorphic Features in Three Turkish Patients

S. Kul, J. Gleeson, F. M. Sonmez, 2013, Journal of child neurology.

Brainstem encephalitis and acute disseminated encephalomyelitis following mumps.

A. Ahmetoğlu, F. M. Sonmez, E. Odemis, 2004, Pediatric neurology.

Retrospective evaluation of interferon-beta treatment in subacute sclerosing panencephalitis.

B. Anlar, F. M. Sonmez, G. Kose, 2004, Clinical therapeutics.

Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicism.

F. M. Sonmez, E. Uctepe, Bekir Erguner, 2023, Clinical dysmorphology.