23 results on '"Haack T"'
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2. Homozygous Frameshift Mutation in the ATP1A2 Gene Leading to Severe Pseudo-TORCH Syndrome.
3. Autoimmune Encephalitis in an Infant with Biallelic AIRE Variants: Unusual Manifestation of Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1)?
4. The Potential of Whole-Exome Sequencing (WES) in Neuropediatric Patients: Single-Center Experience at the University Hospital Hamburg Eppendorf
5. Reversible Epileptic Encephalopathy upon Uridine Treatment in Patients with CAD Mutations
6. Congenital Myasthenic Syndrome Caused by Isolated PREPL Deficiency
7. NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
8. Paroxysmal Dyskinesia in ECHS1 Defect with Globus Pallidus Lesions
9. Leukodystrophy with Calcifications and Central Nervous System Atrophy: Expansion of the Phenotypic Spectrum Regarding Autosomal Recessive AARS Mutations?
10. Compound Heterozygous COQ4 Missense Mutations Cause Coenzyme Q10 Deficiency Associated with Severe Infantile Epileptic Encephalopathy and Cerebellar Cysts
11. Hypoparathyroidism, Cardiomyopathy, and Encephalomyopathy Caused by mt Depletion Syndrome due to a Novel Mutation in VARS2: A Case Report
12. Genotype and phenotype in GNAO1-Mutation – Case report of an unusual course of a childhood epilepsy
13. Diagnostic Difficulties in a Child with Tay-Sachs Disease
14. A Nonclassical Clinical Course of Barth Syndrome
15. Brown-Vialetto-Van Laere Syndrome: Clinical Course under High-Dose Riboflavin over 2 Years
16. Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) - an integrated strategy under FP7 to improve research, treatment, and care in neurodegeneration with brain iron accumulation
17. Mitochondriopathy due to mutations in MTFMT: a predominant neurologic phenotype
18. Exome sequencing in 30 neurodegeneration with brain iron accumulation patients
19. Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing
20. Mitochondrial complex I deficiency – new diagnostic approaches allow better genetic characterisation of 150 patients
21. Identification of a second major locus for neurodegeneration with brain iron accumulation
22. Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.
23. Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.
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