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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 | 2 |
2020 | 2 |
2021 | 2 |
2022 | 2 |
2024 | 0 |
Search Results
7 results
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Page 1
Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.
Respir Res. 2022 May 4;23(1):112. doi: 10.1186/s12931-022-02002-z.
Respir Res. 2022.
PMID: 35509004
Free PMC article.
What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics.
Musolf AM, Holzinger ER, Malley JD, Bailey-Wilson JE.
Musolf AM, et al.
Hum Genet. 2022 Sep;141(9):1515-1528. doi: 10.1007/s00439-021-02402-z. Epub 2021 Dec 4.
Hum Genet. 2022.
PMID: 34862561
Free PMC article.
Review.
Item in Clipboard
Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim-Chester Disease.
Shekhar S, Irizarry-Caro JA, Sinaii N, Gahl WA, Estrada-Veras JI, Dave RH, Gochuico BR, Papadakis GZ, Patronas N, Stratakis CA, O'Brien K, Hannah-Shmouni F.
Shekhar S, et al.
Cancers (Basel). 2021 Aug 17;13(16):4126. doi: 10.3390/cancers13164126.
Cancers (Basel). 2021.
PMID: 34439280
Free PMC article.
Item in Clipboard
Diagnosis of Chediak Higashi disease in a 67-year old woman.
Yarnell DS, Roney JC, Teixeira C, Freitas MI, Cipriano A, Leuschner P, Krzewski K, Stephen J, Dorward H, Gahl WA, Gochuico BR, Toro C, Malicdan MC, Introne WJ.
Yarnell DS, et al.
Am J Med Genet A. 2020 Dec;182(12):3007-3013. doi: 10.1002/ajmg.a.61886. Epub 2020 Sep 29.
Am J Med Genet A. 2020.
PMID: 32990340
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Noonan syndrome on the African Continent.
Tekendo-Ngongang C, Kruszka P.
Tekendo-Ngongang C, et al.
Birth Defects Res. 2020 Jun;112(10):718-724. doi: 10.1002/bdr2.1675.
Birth Defects Res. 2020.
PMID: 32558383
Review.
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Introduction.
Kruszka P, Solomon BD, Muenke M.
Kruszka P, et al.
Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):113-116. doi: 10.1002/ajmg.c.31626.
Am J Med Genet C Semin Med Genet. 2018.
PMID: 30182443
No abstract available.
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Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV.
Stephen J, et al.
Hum Genet. 2018 Apr;137(4):293-303. doi: 10.1007/s00439-018-1882-3. Epub 2018 Apr 24.
Hum Genet. 2018.
PMID: 29691655
Free PMC article.
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