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Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 5, p. 428, doi. 10.1159/000530118
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- Publication type:
- Article
A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys).
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- Molecular Syndromology, 2023, v. 14, n. 2, p. 175, doi. 10.1159/000527149
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- Publication type:
- Article
Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1.
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- Molecular Syndromology, 2018, v. 9, n. 3, p. 134, doi. 10.1159/000488438
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- Publication type:
- Article
A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia.
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- Journal of Clinical Research in Pediatric Endocrinology, 2022, v. 14, n. 4, p. 475, doi. 10.4274/jcrpe.galenos.2021.2021.0099
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- Publication type:
- Article
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5031, doi. 10.1093/brain/awad257
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- Article
Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
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- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2021, v. 17, n. 3, p. 240, doi. 10.4274/tnd.2021.91298
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- Publication type:
- Article
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2976, doi. 10.1002/ajmg.a.62944
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- Publication type:
- Article
A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2701, doi. 10.1002/ajmg.a.62888
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- Publication type:
- Article
Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3623, doi. 10.1002/ajmg.a.62410
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- Article
Investigation of (epi)genotype causes and follow‐up manifestations in the patients with classical and atypical phenotype of Beckwith‐Wiedemann spectrum.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1721, doi. 10.1002/ajmg.a.62158
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- Article
Stuve-Wiedemann syndrome: Is it underrecognized?
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2200, doi. 10.1002/ajmg.a.36626
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- Publication type:
- Article
Evaluation of mental retardation -- Part 2: The factors that elucidate the etiologic diagnosis of the patients with mental retardation or multiple congenital abnormality and mental retardation.
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- Journal of Pediatric Neurosciences, 2007, v. 2, n. 2, p. 53, doi. 10.4103/1817-1745.36763
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- Publication type:
- Article
Evaluation of mental retardation -- Part 1: Etiologic classification of 4659 patients with mental retardation or multiple congenital abnormality and mental retardation.
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- Journal of Pediatric Neurosciences, 2007, v. 2, n. 2, p. 45, doi. 10.4103/1817-1745.36762
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- Publication type:
- Article
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
- Published in:
- Nature Genetics, 2015, v. 47, n. 3, p. 304, doi. 10.1038/ng0315-304b
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- Publication type:
- Article
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
- Published in:
- Nature Genetics, 2015, v. 47, n. 1, p. 73, doi. 10.1038/ng.3153
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- Publication type:
- Article
Vanishing white matter disease with different faces.
- Published in:
- Child's Nervous System, 2020, v. 36, n. 2, p. 353, doi. 10.1007/s00381-019-04334-6
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- Publication type:
- Article
CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE.
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- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2022, v. 85, n. 4, p. 501, doi. 10.26650/IUITFD.1130578
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- Publication type:
- Article
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.
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- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10
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- Publication type:
- Article
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.
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- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10
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- Publication type:
- Article
Clinical, Radiological, and Molecular Findings in Cases with TRAPPopathies.
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- Journal of the Child / Çocuk Dergisi, 2023, v. 23, n. 3, p. 1, doi. 10.26650/jchild.2023.1294229
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- Publication type:
- Article
Meeting Reports: Notes and commentaries on Turkish Medical Genetics Association and Cyprus Turkish Genetic Union Meeting.
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- Gazi Medical Journal, 2020, v. 31, n. 3, p. 1
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- Article
Strong mesangial IgA staining—does it always refer to IgA nephropathy in a patient with proteinuria and hematuria? Answers.
- Published in:
- 2021
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- Test/Instrument
Strong mesangial IgA staining—does it always refer to IgA nephropathy in a patient with proteinuria and hematuria? Questions.
- Published in:
- 2021
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- Publication type:
- Test/Instrument
A Case with Laron Syndrome.
- Published in:
- Bezmialem Science, 2019, v. 7, n. 3, p. 251, doi. 10.14235/bas.galenos.2018.2385
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- Publication type:
- Article
Pseudohypoparathyroidism Type Ia with Normocalcemia.
- Published in:
- Bezmialem Science, 2019, v. 7, n. 2, p. 170, doi. 10.14235/bas.galenos.2018.2207
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- Publication type:
- Article
Normokalsemik Seyreden Psödohipoparatiroidizm TİPIA.
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- Bezmialem Science, 2018, v. 6, n. 4, p. 1, doi. 10.14235/bs.2018.2207
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- Publication type:
- Article
L-2-hidroksiglutarik asidüri hastalarında klinik, nöroradyolojik ve genetik bulguların değerlendirilmesi.
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- Türk Pediatri Arşivi, 2020, v. 55, n. 3, p. 290, doi. 10.14744/TurkPediatriArs.2019.06926
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- Publication type:
- Article
ASSOCIATION BETWEEN MIGRAINE AND ALLERGIC RHINITIS IN CHILDHOOD AND ADOLESCENCE.
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- Nobel Medicus Journal, 2016, v. 12, n. 2, p. 26
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- Publication type:
- Article
Clinical and molecular findings in 6 Turkish cases with Krabbe disease.
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- Turkish Journal of Pediatrics, 2022, v. 64, n. 1, p. 69, doi. 10.24953/turkjped.2020.3713
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- Article
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
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- Turkish Journal of Pediatrics, 2017, v. 59, n. 5, p. 601, doi. 10.24953/turkjped.2017.05.017
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- Article
Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.
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- Turkish Journal of Pediatrics, 2017, v. 59, n. 3, p. 329, doi. 10.24953/turkjped.2017.03.016
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- Article
Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.
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- Turkish Journal of Pediatrics, 2009, v. 51, n. 3, p. 301
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- Publication type:
- Article
ASSOCIATING eNOS GENE VARIANTS WITH COVID-19 SUSCEPTIBILITY IN THE TURKISH POPULATION.
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- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2023, v. 86, n. 1, p. 1, doi. 10.26650/IUITFD.1211888
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- Article
Phenotypic continuum of NFU1‐related disorders.
- Published in:
- 2022
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- Publication type:
- Case Study
Restrictive Dermopathy in a Turkish Newborn.
- Published in:
- Pediatric Dermatology, 2011, v. 28, n. 4, p. 408, doi. 10.1111/j.1525-1470.2010.01296.x
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- Publication type:
- Article
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy.
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- Balkan Medical Journal, 2018, v. 35, n. 4, p. 336, doi. 10.4274/balkanmedj.2017.0986
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- Publication type:
- Article
Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?
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- Balkan Medical Journal, 2017, v. 34, n. 6, p. 522, doi. 10.4274/balkanmedj.2015.1717
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- Publication type:
- Article
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
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- Clinical Genetics, 2024, v. 105, n. 6, p. 596, doi. 10.1111/cge.14490
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- Publication type:
- Article
Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype.
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- Clinical Genetics, 2022, v. 101, n. 4, p. 421, doi. 10.1111/cge.14117
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- Publication type:
- Article
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients.
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- Annals of Human Genetics, 2021, v. 85, n. 5, p. 155, doi. 10.1111/ahg.12422
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- Publication type:
- Article
Epilepsy Spectrum Associated with PRRT2 Variants: Case Presentations.
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- Archives of Epilepsy, 2023, v. 29, n. 4, p. 121, doi. 10.4274/ArchEpilepsy.2023.23082
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- Publication type:
- Article
A Rare Cause of Adrenal Insufficiency – Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature.
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- Hormone Research in Paediatrics, 2019, v. 92, n. 6, p. 395, doi. 10.1159/000506740
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- Publication type:
- Article
CAUSE OF RECURRENT RHABDOMYOLYSIS, CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY AND NOVEL PATHOGENIC MUTATION.
- Published in:
- Clinical Neuroscience / Ideggyógyászati Szemle, 2021, v. 74, n. 3/4, p. 135, doi. 10.18071/isz.74.0135
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- Publication type:
- Article
Familial amyloid polyneuropathy due to p.ALA140 SER mutation.
- Published in:
- 2018
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- Publication type:
- Case Study
Erken Dönemde Tanı Alan Bir Fanconi-Bickel Sendromu Olgusu ve SLC2A2 Geninde Yeni Bir Mutasyon.
- Published in:
- Medical Bulletin of Haseki / Haseki Tip Bulteni, 2019, v. 57, n. 3, p. 328, doi. 10.4274/haseki.galenos.2018.4504
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- Publication type:
- Article
A Giant Ovarian Cyst in a Neonate with Classical 21-Hydroxylase Deficiency with Very High Testosterone Levels Demonstrating a High-Dose Hook Effect.
- Published in:
- 2012
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- Publication type:
- Case Study