Výsledky vyhľadávania - "Gezdirici A"

Author response for 'Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders'

Autori: null Cuneyd Yavas null Yunus Emre Arvas null Mustafa Dogan a ďalší

Author response for 'Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease'

Autori: null Pelin Ercoskun null Aydeniz Aydin Gumus null Ezgi Gokpinar Ili a ďalší

Hypotrichosis and Juvenile Macular Dystrophy-First Homozygous Family Case from Türkiye.

Autori: Caf, Nazlı Gezdirici, Alper Karapapak, Murat a ďalší

Zdroj: Turkish Journal of Dermatology / Turk Dermatoloji Dergisis; Apr-Jun2025, Vol. 19 Issue 2, p1-7, 7p

EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder.

Autori: Forghani, Irman Lang, Steven H. Rodier, Matthew J. a ďalší

Zdroj: American Journal of Medical Genetics. Part A; Jun2024, Vol. 194 Issue 6, p1-9, 9p

Control of Coagulation Abnormalities with Sodium Benzoate in Patients with Argininemia.

Autori: Ergun, Nurcan Üçüncü Gezdirici, Alper Önal, Hasan

Zdroj: Journal of Pediatric Research; Jun2025, Vol. 12 Issue 2, p1-6, 6p

Predmety: ARGININE, BENZENE derivatives, BLOOD coagulation disorders, ACADEMIC medical centers, PLATELET count, ASPARTATE aminotransferase, PROTHROMBIN time, CLINICAL trials, TREATMENT effectiveness, BILIRUBIN, BLOOD coagulation factors, PARTIAL thromboplastin time, AMINO acid metabolism disorders, ALANINE aminotransferase, INTERNATIONAL normalized ratio, GENETIC mutation, SODIUM compounds, CASE studies, AMMONIA, SERUM albumin

Geografický termín: TURKEY

Author Index.

Zdroj: European Journal of Neurology; Jun2025 Supplement 1, Vol. 32, p1-60, 60p

ESGCT Abstract Author Index.

Zdroj: Human Gene Therapy; Feb2025, Vol. 36 Issue 3/4, pe558-e591, 34p

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Autori: Gonzaga-Jauregui, C. Yesil, G. Nistala, H. a ďalší

Zdroj: Journal Articles

Predmety: Pediatrics

Popis súboru: application/pdf

Relation: https://academicworks.medicine.hofstra.edu/publications/7860; https://academicworks.medicine.hofstra.edu/context/publications/article/8861/viewcontent/EurJHumGenet2020v28p1243.pdf

Dostupnosť: https://academicworks.medicine.hofstra.edu/publications/7860
https://academicworks.medicine.hofstra.edu/context/publications/article/8861/viewcontent/EurJHumGenet2020v28p1243.pdf

Myocardial infarction and narrowed peripheral arterial vessels secondary to generalised arterial calcification syndrome in a two-month-old girl.

Autori: Toprak, Muhammet Hamza Halil Ozturk, Erkut Hatemi, Ali Can a ďalší

Zdroj: Cardiology in the Young; Aug2024, Vol. 34 Issue 8, p1816-1818, 3p

Back Cover, Volume 43, Issue 7.

Autori: Lima, Ariadne R. Ferreira, Barbara M. Zhang, Chaofan a ďalší

Zdroj: Human Mutation; Jul2022, Vol. 43 Issue 7, pii-ii, 1p

A novel homozygous frameshift CCNO variant presenting with primary ciliary dyskinesia and selective IgM deficiency.

Autori: Celiksoy, Mehmet Halil Turan, Işılay Gezdirici, Alper a ďalší

Zdroj: Pediatric Pulmonology; Nov2023, Vol. 58 Issue 11, p3333-3336, 4p

A novel variant of the STAR gene: nonclassical presentation from Turkey.

Autori: Aytaç Kaplan, Emel Hatun Gezdirici, Alper Kocabey Sütçü, Zümrüt a ďalší

Zdroj: Journal of Pediatric Endocrinology & Metabolism; Sep2024, Vol. 37 Issue 9, p835-839, 5p

The Human Phenotype Ontology in 2024: phenotypes around the world.

Autori: Gargano, Michael A Matentzoglu, Nicolas Coleman, Ben a ďalší

Zdroj: Nucleic Acids Research; 1/5/2024, Vol. 52 Issue D1, pD1333-D1346, 14p

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.

Autori: Dawood, Moez Akay, Gulsen Mitani, Tadahiro a ďalší

Zdroj: American Journal of Medical Genetics. Part A; Mar2023, Vol. 191 Issue 3, p794-804, 11p

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome.

Autori: Yavaş, Cüneyd Ozdemir Ozgenturk, Nehir Dogan, Mustafa a ďalší

Zdroj: Molecular Syndromology; 2024, Vol. 15 Issue 1, p1-13, 13p

Pediatric David procedure for aneurysmally dilated ascending aorta in Loeys-Dietz syndrome.

Autori: Aggarwal, Pankaj Rajupalem, Uday Tej Sain, Ramswaroop a ďalší

Zdroj: Indian Journal of Thoracic & Cardiovascular Surgery; Aug2025, Vol. 41 Issue 8, p1076-1080, 5p

Genetic crosstalk of autism spectrum disorders and epilepsy: an insight into the presynapse.

Autori: Sharma, Mahima Pamidi, Sai Charan Divi, Pavan Kumar a ďalší

Zdroj: Frontiers in Neurology; 2025, p1-8, 8p

Predmety: AUTISM spectrum disorders, EPILEPSY, THERAPEUTICS, SYNAPSES, NEURAL development, BIOLOGICAL crosstalk, PHYSIOLOGY, SYNAPTOSOME-associated protein

Therapeutic Challenges in Total Situs Inversus Associated with Sick Sinus Syndrome, Ventricular Arrhythmias, and Heart Failure with Preserved Ejection Fraction: Narrative Review and Case Report.

Autori: Tudoran, Cristina Tudoran, Mariana Cozma, Dragos a ďalší

Zdroj: Journal of Cardiovascular Development & Disease (JCDD); Nov2025, Vol. 12 Issue 11, p419, 14p

Phenotypic Spectrum of KATNIP -Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Autori: Tedesco, Maria Giovanna Donati, Ilaria Romeo, Chiara a ďalší

Zdroj: Genes; May2025, Vol. 16 Issue 5, p524, 7p

Predmety: ESOPHAGEAL atresia, JOUBERT syndrome, SYMPTOMS, CONGENITAL disorders, BRAIN abnormalities, FAMILIAL spastic paraplegia

Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.

Autori: Yildiz, Edibe Pembegul Kilic, Mehmet Akif Yalcin, Emek Uyur a ďalší

Zdroj: Acta Neurologica Belgica; Oct2023, Vol. 123 Issue 5, p1841-1847, 7p