Hertecant J - Search Results

1

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Saleh S, Beyyumi E, Al Kaabi A, Hertecant J, Barakat D, Al Dhaheri NS, Al-Gazali L, Al Shamsi A. Saleh S, et al. Among authors: hertecant j. Clin Genet. 2021 Nov;100(5):573-600. doi: 10.1111/cge.14044. Epub 2021 Aug 19. Clin Genet. 2021. PMID: 34374989

2

An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth syndrome, ANOTHER syndrome and methimazole embryopathy.

Al-Gazali LI, Hamid Z, Hertecant J, Bakir M, Nath D, Kakadekar A. Al-Gazali LI, et al. Among authors: hertecant j. Clin Dysmorphol. 2002 Apr;11(2):79-85. doi: 10.1097/00019605-200204000-00001. Clin Dysmorphol. 2002. PMID: 12002153

3

Further delineation of Hennekam syndrome.

Al-Gazali LI, Hertecant J, Ahmed R, Khan NA, Padmanabhan R. Al-Gazali LI, et al. Among authors: hertecant j. Clin Dysmorphol. 2003 Oct;12(4):227-32. doi: 10.1097/00019605-200310000-00003. Clin Dysmorphol. 2003. PMID: 14564208 Review.

4

A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.

Al-Gazali L, Hertecant J, Algawi K, El Teraifi H, Dattani M. Al-Gazali L, et al. Among authors: hertecant j. Am J Med Genet A. 2008 Apr 1;146A(7):813-9. doi: 10.1002/ajmg.a.32114. Am J Med Genet A. 2008. PMID: 18271001

5

A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.

Hertecant JL, Al-Gazali LI, Karuvantevida NS, Ali BR. Hertecant JL, et al. Saudi Med J. 2009 Dec;30(12):1601-3. Saudi Med J. 2009. PMID: 19936428

6

New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.

Ali BR, Hertecant JL, Al-Jasmi FA, Hamdan MA, Khuri SF, Akawi NA, Al-Gazali LI. Ali BR, et al. Saudi Med J. 2011 Apr;32(4):353-9. Saudi Med J. 2011. PMID: 21483992

7

Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.

Ben-Rebeh I, Hertecant JL, Al-Jasmi FA, Aburawi HE, Al-Yahyaee SA, Al-Gazali L, Ali BR. Ben-Rebeh I, et al. Genet Test Mol Biomarkers. 2012 May;16(5):366-71. doi: 10.1089/gtmb.2011.0175. Epub 2011 Nov 22. Genet Test Mol Biomarkers. 2012. PMID: 22106832 Free PMC article.

8

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.

Hertecant JL, Ben-Rebeh I, Marah MA, Abbas T, Ayadi L, Ben Salem S, Al-Jasmi FA, Al-Gazali L, Al-Yahyaee SA, Ali BR. Hertecant JL, et al. Eur J Med Genet. 2012 Dec;55(12):671-6. doi: 10.1016/j.ejmg.2012.08.001. Epub 2012 Aug 16. Eur J Med Genet. 2012. PMID: 22960500

9

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. Below JE, et al. Among authors: hertecant jl. Am J Hum Genet. 2013 Jan 10;92(1):137-43. doi: 10.1016/j.ajhg.2012.11.011. Epub 2012 Dec 27. Am J Hum Genet. 2013. PMID: 23273567 Free PMC article.

10

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

Ben-Salem S, Hertecant J, Al-Shamsi AM, Ali BR, Al-Gazali L. Ben-Salem S, et al. Among authors: hertecant j. Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):764-9. doi: 10.1002/bdra.23170. Epub 2013 Sep 6. Birth Defects Res A Clin Mol Teratol. 2013. PMID: 24014090

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