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Items: 6

1.

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.

Al Yassin A, D'Arco F, Morín M, Pagarkar W, Harrop-Griffiths K, Shaida A, Fernández E, Cullup T, De-Souza B, Moreno-Pelayo MA, Bitner-Glindzicz M.

Genes (Basel). 2019 Jul 12;10(7). pii: E529. doi: 10.3390/genes10070529.

2.

Hearing loss in adults, assessment and management: summary of NICE guidance.

Ftouh S, Harrop-Griffiths K, Harker M, Munro KJ, Leverton T; Guideline Committee.

BMJ. 2018 Jun 22;361:k2219. doi: 10.1136/bmj.k2219. No abstract available.

PMID:
29934300
3.

Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M.

Hum Genet. 2018 Mar;137(3):279-280. doi: 10.1007/s00439-018-1870-7.

PMID:
29435658
4.

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M.

Hum Genet. 2018 Feb;137(2):111-127. doi: 10.1007/s00439-017-1862-z. Epub 2018 Jan 5. Erratum in: Hum Genet. 2018 Feb 12;:.

PMID:
29305691
5.

The impact of universal newborn hearing screening.

Harrop-Griffiths K.

Arch Dis Child. 2016 Jan;101(1):1-2. doi: 10.1136/archdischild-2014-307867. Epub 2015 Sep 7. No abstract available.

PMID:
26347388

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