Literature DB >> 24941904

Mutations in NGLY1 gene linked with new genetic disorder: parents' reports of children's symptoms help facilitate the discovery.

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Year:  2014        PMID： 24941904     DOI： 10.1002/ajmg.a.36644

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

Review 1.  Neurological aspects of human glycosylation disorders.

Authors:  Hudson H Freeze; Erik A Eklund; Bobby G Ng; Marc C Patterson
Journal:  Annu Rev Neurosci       Date:  2015-04-02       Impact factor: 12.449

2.  Novel genetic causes for cerebral visual impairment.

Authors:  Daniëlle G M Bosch; F Nienke Boonstra; Nicole de Leeuw; Rolph Pfundt; Willy M Nillesen; Joep de Ligt; Christian Gilissen; Shalini Jhangiani; James R Lupski; Frans P M Cremers; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2015-09-09       Impact factor: 4.246

3.  The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom Software to Support Research for Complex-Disease Families.

Authors:  Jessica Guzman; Elizabeth Lee; David Draper; Zaheer Valivullah; Guoyun Yu; Murat Sincan; William A Gahl; David R Adams
Journal:  Children (Basel)       Date:  2015-07-31

Review 4.  A RaDiCAL gene hunt.

Authors:  Mihaela Pupavac; Ma'n H Zawati; David S Rosenblatt
Journal:  J Taibah Univ Med Sci       Date:  2017-01-19
  4 in total

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