Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2001 1
2003 3
2004 3
2006 3
2007 1
2008 2
2011 1
2012 4
2013 5
2014 4
2015 4
2016 3
2017 1
2018 1
2020 1
2022 4
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

42 results

Results by year

Filters applied: . Clear all
Page 1
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Delanne J, Lecat M, Blackburn PR, Klee EW, Stumpel CTRM, Stegmann S, Stevens SJC, Nava C, Heron D, Keren B, Mahida S, Naidu S, Babovic-Vuksanovic D, Herkert JC, Torring PM, Kibæk M, De Bie I, Pfundt R, Hendriks YMC, Ousager LB, Bend R, Warren H, Skinner SA, Lyons MJ, Pöe C, Chevarin M, Jouan T, Garde A, Thomas Q, Kuentz P, Tisserant E, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Delanne J, et al. Among authors: hendriks ymc. Eur J Med Genet. 2023 Jan;66(1):104670. doi: 10.1016/j.ejmg.2022.104670. Epub 2022 Nov 19. Eur J Med Genet. 2023. PMID: 36414205 Review.
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
Mericq V, Huang-Doran I, Al-Naqeb D, Basaure J, Castiglioni C, de Bruin C, Hendriks Y, Bertini E, Alkuraya FS, Losekoot M, Al-Rubeaan K, Semple RK, Wit JM. Mericq V, et al. Among authors: hendriks y. Eur J Endocrinol. 2022 Mar 23;186(5):543-552. doi: 10.1530/EJE-21-0609. Eur J Endocrinol. 2022. PMID: 35234134 Free PMC article.
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Panneman DM, Wortmann SB, Haaxma CA, van Hasselt PM, Wolf NI, Hendriks Y, Küsters B, van Emst-de Vries S, van de Westerlo E, Koopman WJH, Wintjes L, van den Brandt F, de Vries M, Lefeber DJ, Smeitink JAM, Rodenburg RJ. Panneman DM, et al. Among authors: hendriks y. Clin Genet. 2020 Apr;97(4):556-566. doi: 10.1111/cge.13706. Epub 2020 Jan 30. Clin Genet. 2020. PMID: 31957011 Free PMC article.
Duration of rectal colonization with extended-spectrum beta-lactamase-producing Escherichia coli: results of an open, dynamic cohort study in Dutch nursing home residents (2013-2019).
Weterings V, van den Bijllaardt W, Bootsma M, Hendriks Y, Kilsdonk L, Mulders A, Kluytmans J. Weterings V, et al. Among authors: hendriks y. Antimicrob Resist Infect Control. 2022 Jul 15;11(1):98. doi: 10.1186/s13756-022-01132-9. Antimicrob Resist Infect Control. 2022. PMID: 35841002 Free PMC article.
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.
Almomani R, Sun Y, Aten E, Hilhorst-Hofstee Y, Peeters-Scholte CM, van Haeringen A, Hendriks YM, den Dunnen JT, Breuning MH, Kriek M, Santen GW. Almomani R, et al. Among authors: hendriks ym. Am J Med Genet A. 2013 May;161A(5):973-6. doi: 10.1002/ajmg.a.35808. Epub 2013 Mar 13. Am J Med Genet A. 2013. PMID: 23494849
42 results