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Page 1
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Mol Psychiatry. 2017 Jun;22(6):836-849. doi: 10.1038/mp.2016.84. Epub 2016 May 31.
Mol Psychiatry. 2017.
PMID: 27240531
Free PMC article.
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.
Alfaiz AA, Müller V, Boutry-Kryza N, Ville D, Guex N, de Bellescize J, Rivier C, Labalme A, des Portes V, Edery P, Till M, Xenarios I, Sanlaville D, Herrmann JM, Lesca G, Reymond A.
Alfaiz AA, et al.
Eur J Hum Genet. 2016 Jul;24(7):1001-8. doi: 10.1038/ejhg.2015.227. Epub 2015 Oct 21.
Eur J Hum Genet. 2016.
PMID: 26486472
Free PMC article.
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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA; 16p11.2 European Consortium; van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A.
Migliavacca E, et al. Among authors: alfaiz aa.
Am J Hum Genet. 2015 May 7;96(5):784-96. doi: 10.1016/j.ajhg.2015.04.002. Epub 2015 Apr 30.
Am J Hum Genet. 2015.
PMID: 25937446
Free PMC article.
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TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.
Alfaiz AA, Micale L, Mandriani B, Augello B, Pellico MT, Chrast J, Xenarios I, Zelante L, Merla G, Reymond A.
Alfaiz AA, et al.
Hum Mutat. 2014 Apr;35(4):447-51. doi: 10.1002/humu.22529.
Hum Mutat. 2014.
PMID: 24515783
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Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum.
Alamri AS, Alshowaeir DA, AlFaiz AA, Al Mousawi FH, Mahmoud AA, Alhashim AH.
Alamri AS, et al. Among authors: alfaiz aa.
J Neuroophthalmol. 2019 Sep;39(3):391-393. doi: 10.1097/WNO.0000000000000795.
J Neuroophthalmol. 2019.
PMID: 31022067
No abstract available.
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A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.
Fusco C, Nittis P, Alfaiz AA, Pellico MT, Augello B, Malerba N, Zelante L, Reymond A, Merla G.
Fusco C, et al. Among authors: alfaiz aa.
J Pediatr Genet. 2017 Jun;6(2):98-102. doi: 10.1055/s-0036-1588029. Epub 2016 Aug 31.
J Pediatr Genet. 2017.
PMID: 28496997
Free PMC article.
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