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Journal of Human Genetics, ISSN 1434-5161, 04/2018, Volume 63, Issue 4, pp. 393 - 396
Journal Article
JOURNAL OF HUMAN GENETICS, ISSN 1434-5161, 05/2019, Volume 64, Issue 5, pp. 355 - 357
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 01/2019, Volume 64, Issue 1, pp. 1 - 1
Journal Article
JOURNAL OF HUMAN GENETICS, ISSN 1434-5161, 04/2018, Volume 63, Issue 4, pp. 393 - 396
Journal Article
JOURNAL OF HUMAN GENETICS, ISSN 1434-5161, 12/2017, Volume 62, Issue 12, pp. 1007 - 1007
Journal Article
JOURNAL OF HUMAN GENETICS, ISSN 1434-5161, 05/2017, Volume 62, Issue 5, pp. 521 - 521
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 5, pp. 517 - 519
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 06/2016, Volume 61, Issue 6, pp. 467 - 469
Journal Article
Journal Article
Nature Reviews Neurology, ISSN 1759-4758, 12/2014, Volume 10, Issue 12, pp. 676 - 678
Clinical exome sequencing (CES) is becoming a standard tool for molecular diagnosis of genetic disorders, with a diagnostic yield of approximately 25%. New... 
Neurology | Methods | Exome sequencing | Innovations
Journal Article
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 10/2018, Volume 63, Issue 10, pp. 1049 - 1054
The mammalian Na+/H+ exchanger isoform one (NHE1), encoded by Solute Carrier Family 9, member 1 (SLC9A1), consists of 12 membrane domains and a cytosolic... 
NA+/H+ EXCHANGER NHE1 | DISEASES | GENETICS & HEREDITY | SLC9A1 | Humans | Child, Preschool | Sodium-Hydrogen Exchanger 1 - genetics | Male | Whole Exome Sequencing | Cerebellar Ataxia - physiopathology | Cerebellar Ataxia - genetics | Adolescent | Cerebellar Ataxia - diagnostic imaging | Adult | Female | Mutation | Child
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 01/2014, Volume 59, Issue 1, pp. 1 - 1
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 376 - 378
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2008, Volume 40, Issue 6, pp. 782 - 788
Journal Article
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