52 results on '"Yesil, Gozde"'
Search Results
2. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data
3. A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy
4. A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings
5. Functional Characterization of a missense mutation in the TRAPPC12 gene presenting with progressive encephalopathy with brain atrophy and spasticity phenotype without microcephaly and epilepsy
6. Genetic and Clinical Features of Hereditary Spastic Paraplegia in Childhood: Identification of Eight Novel Variants
7. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
8. Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy
9. Action myoclonus-renal failure syndrome: Electrophysiological analysis and clinical progression of two siblings
10. Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy
11. Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability
12. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C
13. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
14. Evaluation of the parents’ anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support
15. Functional Characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy
16. Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency
17. Evaluation Of The Parents’ Anxiety Levels Before And After The Diagnosis Of Their Child With A Rare Genetic Disease: The Necessity Of Psychological Support
18. Parents of ataxia‐telangiectasia patients display a distinct cellular immune phenotype mimicking ATM ‐mutated patients
19. Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature
20. Expanding gray zones in ERCC2 mutations; a patient with XP phenotype and acute post-infectious leukodystrophy
21. Correlation Between DTI Findings and Volume of Corpus Callosum in Children with AUTISM
22. A rare cause of hypertension in childhood: Answers
23. A rare cause of hypertension in childhood: Questions
24. Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers
25. Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions
26. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
27. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
28. PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans
29. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease
30. Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature
31. Novel PTCH1 Gene Mutation in a Patient with Gorlin–Goltz Syndrome
32. Phenotypic expansion illuminates multilocus pathogenic variation
33. The Contribution of DTI in Determining the Relationship of Epilepsy and Brain Lesions in Children with Tuberous Sclerosis
34. Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey
35. A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood
36. Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients
37. MRI and MRS findings in fucosidosis; a rare lysosomal storage disease
38. Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia
39. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
40. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
41. Homozygous Loss-of-function Mutations inSOHLH1in Patients With Nonsyndromic Hypergonadotropic Hypogonadism
42. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
43. Comparison of metabolic profile and abdominal fat distribution between karyotypically normal women with premature ovarian insufficiency and age matched controls
44. Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function
45. Report of a patient with Temple–Baraitser syndrome
46. The Effect of Genetic Polymorphisms of Cytochrome P450 CYP2C9, CYP2C19, and CYP2D6 on Drug-Resistant Epilepsy in Turkish Children
47. The drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant epilepsy in Turkish children
48. Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused byPAPSS2Mutations
49. Congenital Agenesis of Scrotum and Labia Majora in Siblings
50. A Novel GJC2 Mutation Associated with Hypomyelination and Müllerian Agenesis Syndrome: Coincidence or a New Entity?
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