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Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2018 | 4 |
2019 | 2 |
2024 | 0 |
Search Results
6 results
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Page 1
Nablus syndrome: Easy to diagnose yet difficult to solve.
Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):447-457. doi: 10.1002/ajmg.c.31660.
Am J Med Genet C Semin Med Genet. 2018.
PMID: 30580486
Review.
Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.
Innes AM, McInnes BL, Dyment DA.
Innes AM, et al.
Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):387-397. doi: 10.1002/ajmg.c.31661.
Am J Med Genet C Semin Med Genet. 2018.
PMID: 30580484
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The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.
Hartley T, Balcı TB, Rojas SK, Eaton A, Canada CR, Dyment DA, Boycott KM.
Hartley T, et al.
Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):458-463. doi: 10.1002/ajmg.c.31662.
Am J Med Genet C Semin Med Genet. 2018.
PMID: 30580481
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NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.
McNiven V, Ito YA, Hartley T, Kernohan K, Miller E; Care4Rare Canada; Armour CM.
McNiven V, et al.
Am J Med Genet A. 2019 May;179(5):837-841. doi: 10.1002/ajmg.a.61095. Epub 2019 Feb 17.
Am J Med Genet A. 2019.
PMID: 30773799
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Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.
Bourque DK, Cloutier M, Kernohan KD, Bareke E, Grynspan D, Michaud J; Care4Rare Canada Consortium; Boycott KM.
Bourque DK, et al.
Am J Med Genet A. 2019 May;179(5):813-816. doi: 10.1002/ajmg.a.61076. Epub 2019 Mar 5.
Am J Med Genet A. 2019.
PMID: 30838783
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Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.
McDonell LM, Leung GK, Daoud H, Ip J, Chim S, Luk HM, Lan L; Care4Rare Canada Consortium; Boycott KM, Chung BH.
McDonell LM, et al.
Am J Med Genet A. 2018 Nov;176(11):2523-2527. doi: 10.1002/ajmg.a.40349. Epub 2018 Oct 5.
Am J Med Genet A. 2018.
PMID: 30289595
No abstract available.
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