Detalles de la búsqueda
1.
A rapid and noninvasive method for detecting tissue-limited mosaicism: detection of i(12)(p10) in buccal smear from a child with Pallister-Killian syndrome.
Genet Test;
7(3): 219-23, 2003.
Artículo
en Inglés
| MEDLINE | ID: mdl-14641998
2.
Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands.
Genet Test;
6(3): 211-5, 2002.
Artículo
en Inglés
| MEDLINE | ID: mdl-12490062
3.
First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies.
Am J Med Genet A;
146A(19): 2578-82, 2008 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-18792973
4.
A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia.
Eur J Med Genet;
54(4): e394-8, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-21466863
5.
Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome.
Clin Dysmorphol;
19(4): 185-189, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20571379
6.
Partial trisomy and partial monosomy resulting from a reciprocal segregating in a large family.
Indian J Pediatr;
75(9): 956-60, 2008 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-18568304
7.
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.
Am J Hum Genet;
76(4): 652-62, 2005 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-15726498
8.
Prenatal diagnosis of a fetus with unbalanced translocation (4;13)(p16;q32) with overlapping features of Patau and Wolf-Hirschhorn syndromes.
Fetal Diagn Ther;
17(6): 347-51, 2002.
Artículo
en Inglés
| MEDLINE | ID: mdl-12393964
Resultados
1 -
8
de 8
1
Próxima >
>>