J. Israel

发表

Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families.

C. Stevens, J. Fryns, S. Tinschert, 1995, American journal of medical genetics.

A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163kb and microduplication of 288kb at 11p13 and 11q22.3 without aniridia or eye anomalies

J. Kogan, B. Ticho, Lara Balay, 2016, American journal of medical genetics. Part A.

Analysis of variability of clinical manifestations in Waardenburg syndrome.

K. Arnos, J. Meyer, C. Stevens, 1995, American journal of medical genetics.

Oculoauriculovertebral anomaly: segregation analysis.

J. Richtsmeier, N. Morton, C. Kaye, 1992, American journal of medical genetics.

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?

K. Arnos, A. Pandya, S. Blanton, 1996, Human molecular genetics.

Leiomyosarcoma in a patient with trisomy 8 mosaicism.

K. Szego, M. Lessick, J. Israel, 1990, Journal of medical genetics.

Ganglioneuroblastoma and fetal hydantoin-alcohol syndromes.

C. Kaye, M. Abulaban, R. Seeler, 1979, Pediatrics.

Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus.

D. Ledbetter, S. Christian, B. Rich, 1999, The Journal of pediatrics.

Partial trisomy 16q secondary to a maternal 9;16 translocation.

K. Szego, M. Lessick, J. Israel, 1989, Journal of medical genetics.

Severe manifestations of oculoauriculovertebral spectrum in a cocaine exposed infant.

R. Vasa, M. Lessick, J. Israel, 1991, Journal of medical genetics.

The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.

Golder N Wilson, C. Stevens, S. Tinschert, 1994, Genetic counseling.