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90 results
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Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates.
Jeganathan D, Chodhari R, Meeks M, Faeroe O, Smyth D, Nielsen K, Amirav I, Luder AS, Bisgaard H, Gardiner RM, Chung EM, Mitchison HM. Jeganathan D, et al. Among authors: luder as. J Med Genet. 2004 Mar;41(3):233-40. doi: 10.1136/jmg.2003.014084. J Med Genet. 2004. PMID: 14985390 Free PMC article. No abstract available.
Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in brief no. 229. Online.
Peters H, Lüder A, Harder A, Schuelke M, Tinschert S. Peters H, et al. Among authors: luder a. Hum Mutat. 1999;13(3):258. doi: 10.1002/(SICI)1098-1004(1999)13:3<258::AID-HUMU17>3.0.CO;2-1. Hum Mutat. 1999. PMID: 10090487
Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.
Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R. Shatzky S, et al. Among authors: luder a. Am J Med Genet. 2000 Jun 19;92(5):353-60. doi: 10.1002/1096-8628(20000619)92:5<353::aid-ajmg12>;2-c. Am J Med Genet. 2000. PMID: 10861667
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.
Falik-Zaccai TC, Khayat M, Luder A, Frenkel P, Magen D, Brik R, Gershoni-Baruch R, Mandel H. Falik-Zaccai TC, et al. Among authors: luder a. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):46-56. doi: 10.1002/ajmg.b.30945. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19308961
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H. Magen D, et al. Among authors: luder a. Am J Hum Genet. 2008 Jul;83(1):30-42. doi: 10.1016/j.ajhg.2008.05.016. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18571143 Free PMC article.
Mucolipidosis type IV: a mild form with late onset.
Reis S, Sheffer RN, Merin S, Luder AS, Bach G. Reis S, et al. Among authors: luder as. Am J Med Genet. 1993 Sep 1;47(3):392-4. doi: 10.1002/ajmg.1320470319. Am J Med Genet. 1993. PMID: 8135288
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