Tzu Ying Yap

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

Authors:

Marie Shaw Tzu Ying Yap Lyndal Henden Melanie Bahlo Alison Gardner Vera M Kalscheuer Eric Haan Louise Christie Anna Hackett Jozef Gecz

Eur J Med Genet 2015 Jun-Jul;58(6-7):364-8. Epub 2015 Apr 28.

Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia; School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA 5000, Australia. Electronic address:

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March 2016

NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.

Authors:

Gai McMichael Eric Haan Alison Gardner Tzu Ying Yap Suzanna Thompson Robert Ouvrier Russell C Dale Jozef Gecz Alastair H Maclennan

Eur J Med Genet 2013 Sep 30;56(9):506-9. Epub 2013 Jul 30.

The Robinson Institute, The University of Adelaide, Adelaide, Australia. Electronic address:

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September 2013

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

Am J Hum Genet 2013 May 25;92(5):681-95. Epub 2013 Apr 25.

Center for Frontier Research, National Institute of Genetics, Precursory Research for Embryonic Science and Technology, Japan Science and Technology Agency, Mishima 411-8540, Japan.

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May 2013

Publications by authors named "Tzu Ying Yap"

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

Authors:

NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.

Authors:

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

Authors: