Shiloh Y - Search Results

1

Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.

Avigad S, Kleiman S, Weinstein M, Cohen BE, Schwartz G, Woo SL, Shiloh Y. Avigad S, et al. Among authors: shiloh y. Am J Hum Genet. 1991 Aug;49(2):393-9. Am J Hum Genet. 1991. PMID: 1867197 Free PMC article.

2

A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.

Kleiman S, Bernstein J, Schwartz G, Eisensmith RC, Woo SL, Shiloh Y. Kleiman S, et al. Among authors: shiloh y. Hum Mutat. 1992;1(4):340-3. doi: 10.1002/humu.1380010413. Hum Mutat. 1992. PMID: 1301942

3

A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family.

Kleiman S, Schwartz G, Woo SL, Shiloh Y. Kleiman S, et al. Among authors: shiloh y. Hum Mutat. 1992;1(4):344-6. doi: 10.1002/humu.1380010414. Hum Mutat. 1992. PMID: 1301943 No abstract available.

4

Use of dystrophin genomic and cDNA probes for solving difficulties in carrier detection and prenatal diagnosis of Duchenne muscular dystrophy.

Shomrat R, Driks N, Legum C, Shiloh Y. Shomrat R, et al. Among authors: shiloh y. Am J Med Genet. 1992 Feb 1;42(3):281-7. doi: 10.1002/ajmg.1320420304. Am J Med Genet. 1992. PMID: 1536162

5

Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome.

Ziv Y, Frydman M, Lange E, Zelnik N, Rotman G, Julier C, Jaspers NG, Dagan Y, Abeliovicz D, Dar H, Borochowitz Z, Lathrop M, Gatti RA, Shiloh Y. Ziv Y, et al. Among authors: shiloh y. Hum Genet. 1992 Mar;88(6):619-26. doi: 10.1007/BF02265285. Hum Genet. 1992. PMID: 1551665 Free article.

6

A single origin of phenylketonuria in Yemenite Jews.

Avigad S, Cohen BE, Bauer S, Schwartz G, Frydman M, Woo SL, Niny Y, Shiloh Y. Avigad S, et al. Among authors: shiloh y. Nature. 1990 Mar 8;344(6262):168-70. doi: 10.1038/344168a0. Nature. 1990. PMID: 1968617

7

Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.

Shiloh Y, Litvak G, Ziv Y, Lehner T, Sandkuyl L, Hildesheimer M, Buchris V, Cremers FP, Szabo P, White BN, et al. Shiloh Y, et al. Am J Hum Genet. 1990 Jul;47(1):20-7. Am J Hum Genet. 1990. PMID: 2349949 Free PMC article.

8

G2 chromosomal radiosensitivity in families with ataxia-telangiectasia.

Shiloh Y, Parshad R, Frydman M, Sanford KK, Portnoi S, Ziv Y, Jones GM. Shiloh Y, et al. Hum Genet. 1989 Dec;84(1):15-8. doi: 10.1007/BF00210663. Hum Genet. 1989. PMID: 2606472

9

Medical genetics in Israel.

Goodman RM, Bonne-Tamir B, Adam A, Voss R, Bach G, Shiloh Y, Katznelson MB, Barkai G, Goldman B, Padeh B, et al. Goodman RM, et al. Among authors: shiloh y. J Med Genet. 1989 Mar;26(3):179-89. doi: 10.1136/jmg.26.3.179. J Med Genet. 1989. PMID: 2651670 Free PMC article. No abstract available.

10

A high-density microsatellite map of the ataxia-telangiectasia locus.

Vanagaite L, James MR, Rotman G, Savitsky K, Bar-Shira A, Gilad S, Ziv Y, Uchenik V, Sartiel A, Collins FS, Sheffield VC, Richard CW 3rd, Weissenbach J, Shiloh Y. Vanagaite L, et al. Among authors: shiloh y. Hum Genet. 1995 Apr;95(4):451-4. doi: 10.1007/BF00208975. Hum Genet. 1995. PMID: 7705845

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