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Your search keyword '"Jabs A"' showing total 24 results

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24 results on '"Jabs A"'

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1. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

2. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

12. Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

13. Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations

14. Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

16. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis

17. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21

18. Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene

19. Chromosomal localization of genes required for the terminal steps of oxidative metabolism: alpha and gamma subunits of ATP synthase and the phosphate carrier

21. Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate.

22. Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms.

23. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.

24. Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene

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