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Items: 6

1.

Paternal uniparental disomy of chromosome 13 causing homozygous 35delG mutation of the GJB2 gene and hearing loss.

Yan D, Ouyang XM, Angeli SI, Du LL, Liu XZ.

Am J Med Genet A. 2007 Feb 15;143(4):385-6. No abstract available.

PMID:
17256794
2.

Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience.

Tuerlings JH, de France HF, Hamers A, Hordijk R, Van Hemel JO, Hansson K, Hoovers JM, Madan K, Van der Blij-Philipsen M, Gerssen-Schoorl KB, Kremer JA, Smeets DF.

Eur J Hum Genet. 1998 May-Jun;6(3):194-200.

3.

Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation.

Petit P, Devriendt K, Vermeesch JR, De Cock P, Fryns JP.

Ann Genet. 1998;41(1):22-6.

PMID:
9599647
4.

Trisomy for the distal segment of the short arm of chromosome 17 in a boy with mild mental retardation and some dysmorphic features.

Mégarbané A, Souraty N, Theophile D, Vekemans M, Samaras L, Ghorayeb Z.

Ann Genet. 1997;40(1):55-9.

PMID:
9150851
5.

Deletion of 13q12.1 in a child with Coats disease.

Genkova P, Toncheva D, Tzoneva M, Konstantinov I.

Acta Paediatr Hung. 1986;27(2):141-3.

PMID:
3756013
6.

Fetal karyotype following ascertainment of fetal anomalies by ultrasound.

Palmer CG, Miles JH, Howard-Peebles PN, Magenis RE, Patil S, Friedman JM.

Prenat Diagn. 1987 Oct;7(8):551-5.

PMID:
3317386
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