Meyer BF - Search Results

1

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF Jr. Balasubramanian R, et al. Among authors: meyer bf. Proc Natl Acad Sci U S A. 2014 Dec 16;111(50):17953-8. doi: 10.1073/pnas.1417438111. Epub 2014 Dec 3. Proc Natl Acad Sci U S A. 2014. PMID: 25472840 Free PMC article.

2

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.

Aldahmesh MA, Abu-Safieh L, Khan AO, Al-Hassnan ZN, Shaheen R, Rajab M, Monies D, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: meyer bf. Am J Med Genet A. 2009 Feb 15;149A(4):662-5. doi: 10.1002/ajmg.a.32753. Am J Med Genet A. 2009. PMID: 19283855

3

Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature.

Alsmadi O, Alkayal F, Monies D, Meyer BF. Alsmadi O, et al. Among authors: meyer bf. BMC Res Notes. 2009 Mar 24;2:48. doi: 10.1186/1756-0500-2-48. BMC Res Notes. 2009. PMID: 19309528 Free PMC article.

4

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N. Morales J, et al. Among authors: meyer bf. Am J Hum Genet. 2009 Nov;85(5):558-68. doi: 10.1016/j.ajhg.2009.09.011. Am J Hum Genet. 2009. PMID: 19836009 Free PMC article.

5

A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype.

Raef H, Zou M, Baitei EY, Al-Rijjal RA, Kaya N, Al-Hamed M, Monies D, Abu-Dheim NN, Al-Hindi H, Al-Ghamdi MH, Meyer BF, Shi Y. Raef H, et al. Among authors: meyer bf. Clin Endocrinol (Oxf). 2011 Dec;75(6):791-800. doi: 10.1111/j.1365-2265.2011.04134.x. Clin Endocrinol (Oxf). 2011. PMID: 21627674

6

Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism.

Alazami AM, Monies D, Meyer BF, Alzahrani F, Hashem M, Salih MA, Alkuraya FS. Alazami AM, et al. Among authors: meyer bf. Am J Med Genet A. 2012 Jan;158A(1):245-6. doi: 10.1002/ajmg.a.34347. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105986 No abstract available.

7

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.

Khalak HG, Wakil SM, Imtiaz F, Ramzan K, Baz B, Almostafa A, Hagos S, Alzahrani F, Abu-Dhaim N, Abu Safieh L, Al-Jbali L, Al-Hamed MS, Monies D, Aldahmesh M, Al-Dosari MS, Kaya N, Shamseldin H, Shaheen R, Al-Rashed M, Hashem M, Al-Tassan N, Meyer B, Alazami AM, Alkuraya FS. Khalak HG, et al. Genet Med. 2012 May;14(5):515-9. doi: 10.1038/gim.2011.28. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241088 Free article.

8

Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia.

Wakil SM, Monies DM, Ramzan K, Hagos S, Bastaki L, Meyer BF, Bohlega S. Wakil SM, et al. Among authors: meyer bf. Clin Genet. 2014 Nov;86(5):500-1. doi: 10.1111/cge.12312. Epub 2013 Nov 27. Clin Genet. 2014. PMID: 24283893 No abstract available.

9

A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders.

Muiya NP, Wakil SM, Tahir AI, Hagos S, Najai M, Gueco D, Al-Tassan N, Andres E, Mazher N, Meyer BF, Dzimiri N. Muiya NP, et al. Among authors: meyer bf. Hum Genomics. 2013 Dec 12;7(1):25. doi: 10.1186/1479-7364-7-25. Hum Genomics. 2013. PMID: 24330461 Free PMC article.

10

The 3'-UTR of the adiponectin Q gene harbours susceptibility loci for atherosclerosis and its metabolic risk traits.

Muiya N, Al-Najai M, Tahir AI, Elhawari S, Gueco D, Andres E, Mazhar N, Altassan N, Meyer BF, Alshahid M, Dzimiri N. Muiya N, et al. Among authors: meyer bf. BMC Med Genet. 2013 Dec 13;14:127. doi: 10.1186/1471-2350-14-127. BMC Med Genet. 2013. PMID: 24330659 Free PMC article.

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