37 results on '"Zerres, K."'
Search Results
2. Life with too much polyprenol: polyprenol reductase deficiency
3. Medial temporal lobe dysfunction during encoding and retrieval of episodic memory in non-demented APOE ε4 carriers
4. Genetic variation in schizophrenia-risk-gene dysbindin 1 modulates brain activation in anterior cingulate cortex and right temporal gyrus during language production in healthy individuals
5. L’amyotrophie spinale distale de type 1 (DSMA1 ou SMARD1)
6. Effect of COMT val 158met genotype on cognition and personality
7. 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy11–13 February 2005Naarden, The Netherlands
8. Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA
9. Intelligence and cognitive function in children and adolescents with spinal muscular atrophy
10. A Novel Neurodevelopmental Syndrome Responsive to 5-Hydroxytryptophan and Carbidopa
11. Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype Correlation, and Implications for Genetic Counseling
12. A 16 - Humangenetische Beratung
13. Spinal Muscular Atrophies
14. Becker’s muscular dystrophy aggravating facioscapulohumeral muscular dystrophy – double trouble as an explanation for an atypical phenotype
15. Autorenverzeichnis
16. P13 - Zystennieren
17. Autorenverzeichnis
18. Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia
19. Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH
20. G.O.5 A new autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein, matrin 3
21. Risk allele of DTNBP1 affects anterior cingulate cortex during executive control of attention
22. Impact of apolipoprotein E ɛ4 (APOE4) on brain activation during working memory in cognitively intact individuals
23. P.I.5 Mutations in SIL1 cause Marinesco–Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
24. N.P.4 06 Natural history of severe infantile spinal muscular atrophy – preliminary results of a pilot study
25. Response to comments by J.S. Sieratzki and B. Woll: Cognitive function in children with spinal muscular atrophy
26. Prenatal Diagnosis of Autosomal Recessive Polycystic Kidney Disease (ARPKD): Molecular Genetics, Clinical Experience, and Fetal Morphology
27. Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene
28. Fine Mapping and Narrowing of the Genetic Interval of the Spinal Muscular Atrophy Region by Linkage Studies
29. Large Linkage Analysis in 100 Families with Autosomal Recessive Spinal Muscular Atrophy (SMA) and 11 CEPH Families Using 15 Polymorphic Loci in the Region 5q11.2-q13.3
30. Linkage analysis of spinal muscular atrophy
31. Apolipoprotein E polymorphism influences the cerebral metabolic pattern in Alzheimer's disease
32. Craniometaphyseal dysplasia as a rare cause of a severe neonatal nasal obstruction
33. PRENATAL DIAGNOSIS OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE WITH A DNA PROBE
34. Clinical variability of autosomal dominant spinal muscular atrophy
35. No genetic differences between affected and unaffected members of a German family with Leber's hereditary optic neuropathy (LHON) with respect to ten mtDNA point mutations associated with LHON
36. Fine Mapping of MEP1A, the Gene Encoding the α Subunit of the Metalloendopeptidase Meprin, to Human Chromosome 6p21
37. G7 - Hereditäre Nephropathien
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