252 results on '"Strømme, Petter"'
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2. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
3. DNA methylation episignature in Gabriele-de Vries syndrome
4. Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome
5. Novel Loss of Function Variants in CENPF including a Large Intragenic Deletion in Patients with Strømme Syndrome
6. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
7. Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
8. A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1
9. Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
10. A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
11. A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
12. ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
13. Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease
14. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
15. Kaufman Oculocerebrofacial Syndrome in Sisters with Novel Compound Heterozygous Mutation in UBE3B
16. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
17. CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders
18. Brain monoamine vesicular transport disease caused by homozygous SLC18A2variants: A study in 42 affected individuals
19. Sint nikkedukke – nevrologisk syndrom i en kriminalroman
20. X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction
21. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
22. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
23. Natural history of Christianson syndrome
24. Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome
25. LossofCBY1resultsinaciliopathycharacterizedbyfeatures ofJoubert syndrome
26. Additional file 1 of Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
27. Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study
28. Follow-up of a girl with cleft lip and palate and multiple malformations: Trisomy 20 mosaicism
29. Potassium citrate and metabolic acidosis in children with epilepsy on the ketogenic diet: a prospective controlled study
30. TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery
31. Delineating the GRIN1 phenotypic spectrum
32. Developmental aspects in apple peel intestinal atresia - ocular anomalies- microcephaly syndrome
33. Renal cysts in the carbohydrate-deficient glycoprotein syndrome
34. Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration
35. GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
36. Potassium citrate and metabolic acidosis in children with epilepsy on the ketogenic diet: a prospective controlled study.
37. GRIN2B encephalopathy : Novel findings on phenotype, variant clustering, functional consequences and treatment aspects
38. GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects
39. Minneord: Ruth Bostad
40. Delineating the GRIN1 phenotypic spectrum : A distinct genetic NMDA receptor encephalopathy
41. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
42. Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
43. Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
44. Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
45. Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
46. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
47. ARX and other single genes in X-linked mental retardation: revisiting a population-based study
48. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
49. Author response: Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
50. Om Grunnlovstraktaten bidrar til å demokratisere EU : Hvordan transparens og deltakelse er sikret i Grunnlovstraktaten
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