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207 results

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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y; Care4Rare Consortium; Centers for Mendelian Genomics; Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. Dyment DA, et al. Among authors: innes am. Am J Med Genet A. 2021 Jan;185(1):119-133. doi: 10.1002/ajmg.a.61926. Epub 2020 Oct 24. Am J Med Genet A. 2021. PMID: 33098347 Free PMC article.
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.
Prasad C, Johnson JP, Bonnefont JP, Dilling LA, Innes AM, Haworth JC, Beischel L, Thuillier L, Prip-Buus C, Singal R, Thompson JR, Prasad AN, Buist N, Greenberg CR. Prasad C, et al. Among authors: innes am. Mol Genet Metab. 2001 May;73(1):55-63. doi: 10.1006/mgme.2001.3149. Mol Genet Metab. 2001. PMID: 11350183
Bowen-Conradi syndrome: a clinical and genetic study.
Lowry RB, Innes AM, Bernier FP, McLeod DR, Greenberg CR, Chudley AE, Chodirker B, Marles SL, Crumley MJ, Loredo-Osti JC, Morgan K, Fujiwara TM. Lowry RB, et al. Among authors: innes am. Am J Med Genet A. 2003 Jul 30;120A(3):423-8. doi: 10.1002/ajmg.a.20059. Am J Med Genet A. 2003. PMID: 12838567
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3.
Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, Zelinski T. Lamont RE, et al. Among authors: innes am. Am J Med Genet A. 2005 Jan 15;132A(2):136-43. doi: 10.1002/ajmg.a.30420. Am J Med Genet A. 2005. PMID: 15578624
207 results