A. Johnson

发表

Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.

K. Klinger, P. Gabow, W. Kimberling, 1999, American journal of human genetics.

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.

D. Ledbetter, L. Surh, S. Aradhya, 1996, Journal of medical genetics.

Inheritance of hemochromatosis: linkage to HLA.

M. Skolnick, D. B. Amos, G. Cartwright, 1978, Transactions of the Association of American Physicians.

Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status.

H. Willard, F. S. French, D. Lubahn, 1992, The Journal of clinical endocrinology and metabolism.

Linkage of Gordon’s syndrome to the long arm of chromosome 17 in a region recently linked to familial essential hypertension

R. Gordon, A. Johnson, B. Fu, 1998, Journal of Human Hypertension.

Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.

H. Kazazian, G. Stetten, M. Petersen, 1992, American journal of human genetics.

Hereditary hemochromatosis. Phenotypic expression of the disease.

M. Skolnick, D. B. Amos, G. Cartwright, 1979, The New England journal of medicine.

A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.

R. Trembath, J. Pinkney, C. Veal, 1998, American journal of human genetics.

Genetic linkage between hereditary hemochromatosis and HLA.

N. Mendell, C. Cannings, M. Skolnick, 1979, American journal of human genetics.

Analysis of marker or complex chromosomal rearrangements present in pre‐ and post‐natal karyotypes utilizing a combination of G‐banding, spectral karyotyping and fluorescence in situ hybridization

F. Yang, C. Tuck-Muller, A. Johnson, 2003, Clinical genetics.

Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

R. Kaul, R. Matalon, R. Schutgens, 1996, American journal of human genetics.

Hereditary hemochromatosis. Phenotypic expression of the disease.

M. Skolnick, G. Cartwright, C. Edwards, 1979, The New England journal of medicine.