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Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, + r(X).
Published in:
Clinical Genetics, 1997, v. 52, n. 6, p. 432, doi. 10.1111/j.1399-0004.1997.tb02564.x
By:
- Manea, Susan R.;
- Gershin, Irina F.;
- Babu, Arvind;
- Willner, Judith P.;
- Desnick, Robert J.;
- Cotter, Philip D.
Publication type:
Article
Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation identified in amniocytes.
Published in:
Prenatal Diagnosis, 1998, v. 18, n. 8, p. 857, doi. 10.1002/(SICI)1097-0223(199808)18:8<857::AID-PD356>3.0.CO;2-F
By:
- Cotter, Philip D.;
- Babu, Arvind;
- Willner, Judith P.;
- Desnick, Robert J.
Publication type:
Article
Congenital myotonic dystrophy: An often unsuspected cause of severe polyhydramnios.
Published in:
Prenatal Diagnosis, 1991, v. 11, n. 2, p. 111, doi. 10.1002/pd.1970110206
By:
- Levine, Amy B.;
- Eddleman, Keith A.;
- Chitkara, Usha;
- Willner, Judith P.;
- Vosatka, Robert J.;
- Berkowitz, Richard L.
Publication type:
Article
DIFFUSE CHOROIDAL ATROPHY AND KLINEFELTER SYNDROME.
Published in:
Acta Ophthalmologica (1755375X), 1983, v. 61, n. 2, p. 313, doi. 10.1111/j.1755-3768.1983.tb01425.x
By:
- WOLKSTEIN, MURRAY A.;
- ATKIN, ADAM K.;
- WILLNER, JUDITH P.;
- MINDEL, JOEL S.
Publication type:
Article
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
Published in:
Molecular Autism, 2013, v. 4, n. 1, p. 1, doi. 10.1186/2040-2392-4-18
By:
- Soorya, Latha;
- Kolevzon, Alexander;
- Zweifach, Jessica;
- Lim, Teresa;
- Dobry, Yuriy;
- Schwartz, Lily;
- Frank, Yitzchak;
- Ting Wang, A.;
- Cai, Guiqing;
- Parkhomenko, Elena;
- Halpern, Danielle;
- Grodberg, David;
- Angarita, Benjamin;
- Willner, Judith P.;
- Yang, Amy;
- Canitano, Roberto;
- Chaplin, William;
- Betancur, Catalina;
- Buxbaum, Joseph D.
Publication type:
Article
Nemaline (rod) myopathy: Thexs need for histochemical evaluation of affected families.
Published in:
Annals of Neurology, 1978, v. 4, n. 1, p. 37, doi. 10.1002/ana.410040107
By:
- Bender, Adam N.;
- Willner, Judith P.
Publication type:
Article

Found: 6

Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, + r(X).

Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation identified in amniocytes.

Congenital myotonic dystrophy: An often unsuspected cause of severe polyhydramnios.

DIFFUSE CHOROIDAL ATROPHY AND KLINEFELTER SYNDROME.

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.

Nemaline (rod) myopathy: Thexs need for histochemical evaluation of affected families.