Suchergebnisse - "Hearing Loss, Sensorineural"

PubPharm (43)

1

Association between the prothrombin G20210A mutation and sudden sensorineural hearing loss in European population: a meta-analysis

enthalten in: Thrombosis research | 2015

von Shu, J. | Yin, S. | Tan, A. | +1

2

Role of factor V Leiden polymorphism or G20210A prothrombin variant in patients with sudden sensorineural hearing loss: a meta-analysis of the literature

enthalten in: Thrombosis research | 2015

von Spiezia, L. | Vasques, F. | Bovo, R. | +2

3

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond

enthalten in: Pediatric neurology | 2015

von Sweney, M. | Newcomb, T. | Swoboda, K.

4

Large-scale whole-genome sequencing of the Icelandic population

enthalten in: Nature genetics | 2015

von Gudbjartsson, D. | Helgason, H. | Gudjonsson, S. | +45

5

Improved Locus‐Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data

enthalten in: Human mutation | 2015

von Ferré, M. | Caignard, A. | Milea, D. | +8

6

Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?

enthalten in: Human mutation | 2015

von Mordaunt, D. | Savaririyan, R.

7

Response to: Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?

enthalten in: Human mutation | 2015

von Samuels, M. | Alos, N. | Deal, C.

8

A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine

enthalten in: European journal of human genetics | 2015

von Oh, S. | Baek, J. | Weigand, K. | +12

9

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

enthalten in: Human molecular genetics | 2015

von Grati, M. | Chakchouk, I. | Ma, Q. | +12

10

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells

enthalten in: Human molecular genetics | 2015

von Morozko, E. | Nishio, A. | Ingham, N. | +12

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