Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9.

Por Frydman, M, Shabtal, F, Halbrecht, I, Elian, E
Publicado em 1981

Triple mosaicism 45,XY,--18/46, XY/47,XY,+18.

Por Frydman, M, Shabtai, F, Barak, Y, Halbrecht, I, Elian, E
Publicado em 1979

Recurrent parotitis.

Por Cohen, H A, Gross, S, Nussinovitch, M, Frydman, M, Varsano, I
Publicado em 1992

Negative expansion of the myotonic dystrophy unstable sequence.

Por Abeliovich, D, Lerer, I, Pashut-Lavon, I, Shmueli, E, Raas-Rothschild, A, Frydman, M
Publicado em 1993

A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22‐23

Por Pras, E, Mahler, O, Kumar, V, Frydman, M, Gefen, N, Pras, E, Hejtmancik, J F
Publicado em 2006

Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.

Por Frydman, M, Bonné-Tamir, B, Farrer, L A, Conneally, P M, Magazanik, A, Ashbel, S, Goldwitch, Z
Publicado em 1985

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.

Por Munoz, F, Lestringant, G, Sybert, V, Frydman, M, Alswaini, A, Frossard, P M, Jorgenson, R, Zonana, J
Publicado em 1997

Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.

Por Bowcock, A M, Farrer, L A, Cavalli-Sforza, L L, Hebert, J M, Kidd, K K, Frydman, M, Bonne-Tamir, B
Publicado em 1987

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

Por Bonné-Tamir, B., DeStefano, A. L., Briggs, C. E., Adair, R., Franklyn, B., Weiss, S., Korostishevsky, M., Frydman, M., Baldwin, C. T., Farrer, L. A.
Publicado em 1996

Eight closely linked loci place the Wilson disease locus within 13q14-q21

Por Bowcock, A. M., Farrer, L. A., Hebert, J. M., Agger, M., Sternlieb, I., Scheinberg, I. H., Buys, C. H. C. M., Scheffer, H., Frydman, M., Chajek-Saul, T., Bonne-Tamir, B., Cavalli-Sforza, L. L.
Publicado em 1988

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

Por McIntosh, I, Dreyer, S D, Clough, M V, Dunston, J A, Eyaid, W, Roig, C M, Montgomery, T, Ala-Mello, S, Kaitila, I, Winterpacht, A, Zabel, B, Frydman, M, Cole, W G, Francomano, C A, Lee, B
Publicado em 1998

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly

Por Rosenfeld, J.A., Kim, K.H., Angle, B., Troxell, R., Gorski, J.L., Westemeyer, M., Frydman, M., Senturias, Y., Earl, D., Torchia, B., Schultz, R.A., Ellison, J.W., Tsuchiya, K., Zimmerman, S., Smolarek, T.A., Ballif, B.C., Shaffer, L.G.
Publicado em 2013

Identification of eight novel NSD1 mutations in Sotos syndrome

Por Kamimura, J, Endo, Y, Kurotaki, N, Kinoshita, A, Miyake, N, Shimokawa, O, Harada, N, Visser, R, Ohashi, H, Miyakawa, K, Gerritsen, J, Innes, A, Lagace, L, Frydman, M, Okamoto, N, Puttinger, R, Raskin, S, Resic, B, Culic, V, Yoshiura, K, Ohta, T, Kishino, T, Ishikawa, M, Niikawa, N, Matsumoto, N
Publicado em 2003