Suchergebnisse - "Hearing Loss, Sensorineural"

PubPharm (188)

21

Large-scale whole-genome sequencing of the Icelandic population

enthalten in: Nature genetics | 2015

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

22

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

23

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.

24

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.

25

Early investigational drugs for hearing loss

enthalten in: Expert opinion on investigational drugs | 2015

von Mukherjea, D. | Ghosh, S. | Bhatta, P. | +7

26

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

27

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

28

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

29

Viral load in children with congenital cytomegalovirus infection identified on newborn hearing screening

enthalten in: Journal of clinical virology | 2015

von Kawada, J. | Torii, Y. | Kawano, Y. | +6

30

Quality of Life Outcomes for Cochlear Implantation in the Elderly

enthalten in: Audiology and neurotology | 2015

von Huarte, A. | Lezaun, R. | Manrique, M.