Jalkh N - Search Results

1

Erratum to: Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.

Haidar Z, Temanni R, Chouery E, Jithesh P, Liu W, Al-Ali R, Wang E, Marincola FM, Jalkh N, Haddad S, Haidar W, Chouchane L, Mégarbané A. Haidar Z, et al. Among authors: jalkh n. BMC Genet. 2017 Feb 1;18(1):9. doi: 10.1186/s12863-017-0480-z. BMC Genet. 2017. PMID: 28148224 Free PMC article. No abstract available.

2

Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient.

Gannagé-Yared MH, Dodé C, Ghanem I, Chouery E, Jalkh N, Hardelin JP, Mégarbané A. Gannagé-Yared MH, et al. Among authors: jalkh n. Eur J Endocrinol. 2005 Jun;152(6):813-7. doi: 10.1530/eje.1.01915. Eur J Endocrinol. 2005. PMID: 15941919

3

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.

Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestilä M, Gillerot Y, Mégarbané A, Verloes A. Van Maldergem L, et al. Among authors: jalkh n. J Med Genet. 2006 Feb;43(2):148-52. doi: 10.1136/jmg.2005.031781. Epub 2005 Jun 17. J Med Genet. 2006. PMID: 15964893 Free PMC article.

4

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.

Medlej-Hashim M, Serre JL, Corbani S, Saab O, Jalkh N, Delague V, Chouery E, Salem N, Loiselet J, Lefranc G, Mégarbané A. Medlej-Hashim M, et al. Among authors: jalkh n. Eur J Med Genet. 2005 Oct-Dec;48(4):412-20. doi: 10.1016/j.ejmg.2005.05.010. Epub 2005 Jun 20. Eur J Med Genet. 2005. PMID: 16378925

5

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, Dollfus H. Laurier V, et al. Among authors: jalkh n. Eur J Hum Genet. 2006 Nov;14(11):1195-203. doi: 10.1038/sj.ejhg.5201688. Epub 2006 Jul 5. Eur J Hum Genet. 2006. PMID: 16823392

6

Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.

Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac CA, Mégarbané A, Serre JL. Jalkh N, et al. Ann Hum Genet. 2008 Jan;72(Pt 1):41-7. doi: 10.1111/j.1469-1809.2007.00386.x. Epub 2007 Aug 16. Ann Hum Genet. 2008. PMID: 17711558

7

A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12.

Chouery E, Kfoury J, Delague V, Jalkh N, Bejjani P, Serre JL, Mégarbané A. Chouery E, et al. Among authors: jalkh n. Neurogenetics. 2008 Oct;9(4):287-93. doi: 10.1007/s10048-008-0142-4. Epub 2008 Aug 8. Neurogenetics. 2008. PMID: 18688663

8

Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome?

Mégarbané A, Samaras L, Chédid R, Chouery E, Chrétien D, Caillaud C, Abou-Ghoch J, Jalkh N. Mégarbané A, et al. Among authors: jalkh n. Am J Med Genet A. 2008 Dec 15;146A(24):3198-201. doi: 10.1002/ajmg.a.32579. Am J Med Genet A. 2008. PMID: 19012336

9

A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation.

Stora S, Conte M, Chouery E, Richa S, Jalkh N, Gillart AC, Joannis AL, Mégarbané A. Stora S, et al. Among authors: jalkh n. Eur J Med Genet. 2009 Sep-Oct;52(5):341-3. doi: 10.1016/j.ejmg.2009.06.005. Epub 2009 Jul 3. Eur J Med Genet. 2009. PMID: 19577669

10

1Novel MEFV transcripts in Familial Mediterranean fever patients and controls.

Medlej-Hashim M, Nehme N, Chouery E, Jalkh N, Megarbane A. Medlej-Hashim M, et al. Among authors: jalkh n. BMC Med Genet. 2010 Jun 9;11:87. doi: 10.1186/1471-2350-11-87. BMC Med Genet. 2010. PMID: 20534143 Free PMC article.

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