Race V - Search Results

1

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening.

Brison N, Storms J, Villela D, Claeys KG, Dehaspe L, de Ravel T, De Waele L, Goemans N, Legius E, Peeters H, Van Esch H, Race V, Robert Vermeesch J, Devriendt K, Van Den Bogaert K. Brison N, et al. Among authors: race v. Genet Med. 2019 Dec;21(12):2774-2780. doi: 10.1038/s41436-019-0564-4. Epub 2019 Jun 14. Genet Med. 2019. PMID: 31197268 Free article.

2

Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.

Santamaria R, Esposito G, Vitagliano L, Race V, Paglionico I, Zancan L, Zagari A, Salvatore F. Santamaria R, et al. Among authors: race v. Biochem J. 2000 Sep 15;350 Pt 3(Pt 3):823-8. Biochem J. 2000. PMID: 10970798 Free PMC article.

3

Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation.

Van Esch H, Buekenhout L, Race V, Matthijs G. Van Esch H, et al. Among authors: race v. Eur J Med Genet. 2009 Jan-Feb;52(1):37-40. doi: 10.1016/j.ejmg.2008.11.001. Epub 2008 Nov 17. Eur J Med Genet. 2009. PMID: 19041959

4

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.

Ardui S, Race V, Zablotskaya A, Hestand MS, Van Esch H, Devriendt K, Matthijs G, Vermeesch JR. Ardui S, et al. Among authors: race v. Hum Mutat. 2017 Mar;38(3):324-331. doi: 10.1002/humu.23150. Epub 2017 Jan 17. Hum Mutat. 2017. PMID: 27883256 Free article.

5

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.

Ardui S, Race V, de Ravel T, Van Esch H, Devriendt K, Matthijs G, Vermeesch JR. Ardui S, et al. Among authors: race v. Front Genet. 2018 May 16;9:150. doi: 10.3389/fgene.2018.00150. eCollection 2018. Front Genet. 2018. PMID: 29868108 Free PMC article.

6

Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo.

Lumaka A, Lubala TK, Race V, Peeters H, Lukusa P, Devriendt K. Lumaka A, et al. Among authors: race v. J Community Genet. 2019 Jan;10(1):153-159. doi: 10.1007/s12687-018-0374-4. Epub 2018 Jul 4. J Community Genet. 2019. PMID: 29974402 Free PMC article.

7

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

Lumaka A, Race V, Peeters H, Corveleyn A, Coban-Akdemir Z, Jhangiani SN, Song X, Mubungu G, Posey J, Lupski JR, Vermeesch JR, Lukusa P, Devriendt K. Lumaka A, et al. Among authors: race v. Am J Med Genet A. 2018 Sep;176(9):1897-1909. doi: 10.1002/ajmg.a.40382. Epub 2018 Aug 8. Am J Med Genet A. 2018. PMID: 30088852 Free PMC article.

8

Challenges in molecular diagnosis of X-linked Intellectual disability.

De Luca C, Race V, Keldermans L, Bauters M, Van Esch H. De Luca C, et al. Among authors: race v. Br Med Bull. 2020 May 15;133(1):36-48. doi: 10.1093/bmb/ldz039. Br Med Bull. 2020. PMID: 32043524 Review.

9

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.

Rinaldi B, Race V, Corveleyn A, Van Hoof E, Bauters M, Van Den Bogaert K, Denayer E, de Ravel T, Legius E, Baldewijns M, Aertsen M, Lewi L, De Catte L, Breckpot J, Devriendt K. Rinaldi B, et al. Among authors: race v. Eur J Med Genet. 2020 May;63(5):103875. doi: 10.1016/j.ejmg.2020.103875. Epub 2020 Feb 10. Eur J Med Genet. 2020. PMID: 32058062

10

Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxia.

Van Daele SH, Vermeer S, Van Eesbeeck A, Lannoo L, Race V, van Damme P, Claeys K, Vandenberghe W. Van Daele SH, et al. Among authors: race v. J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1233-1234. doi: 10.1136/jnnp-2020-323998. Epub 2020 Jul 30. J Neurol Neurosurg Psychiatry. 2020. PMID: 32732387 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

55 results

Search Page