X linked mental retardation.
I A Glass
J Med Genet 1991; 28: 361-371. doi:10.1136/jmg.28.6.361
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Localisation of the MRX3 gene for non-specific X linked mental retardation.
A Gedeon, B Kerr, J Mulley, and G Turner
J Med Genet 1991; 28: 372-377. doi:10.1136/jmg.28.6.372
[Abstract]
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Non-specific X linked mental retardation.
B Kerr, G Turner, J Mulley, A Gedeon, and M Partington
J Med Genet 1991; 28: 378-382. doi:10.1136/jmg.28.6.378
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Contribution to carrier detection and genetic counselling in X linked retinoschisis.
J Kaplan, A Pelet, H Hentati, M Jeanpierre, M L Briard, H Journel, A Munnich, and J L Dufier
J Med Genet 1991; 28: 383-388. doi:10.1136/jmg.28.6.383
[Abstract]
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Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia.
H G Brunner and R M Winter
J Med Genet 1991; 28: 389-394. doi:10.1136/jmg.28.6.389
[Abstract]
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On the incidence of fits and mental retardation in tuberous sclerosis.
D W Webb, A E Fryer, and J P Osborne
J Med Genet 1991; 28: 395-397. doi:10.1136/jmg.28.6.395
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Segregation and sporadic cases in families with Hunter's syndrome.
G Machill, G Barbujani, G A Danieli, and F H Herrmann
J Med Genet 1991; 28: 398-401. doi:10.1136/jmg.28.6.398
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Sanfilippo syndrome type D in two adolescent sisters.
L Siciliano, A Fiumara, L Pavone, C Freeman, D Robertson, C P Morris, J J Hopwood, P Di Natale, S Musumeci, and A L Horwitz
J Med Genet 1991; 28: 402-405. doi:10.1136/jmg.28.6.402
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The Holt-Oram syndrome.
J A Hurst, C M Hall, and M Baraitser
J Med Genet 1991; 28: 406-410. doi:10.1136/jmg.28.6.406
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Deletion of chromosome 13 in Moebius syndrome.
J J Slee, R D Smart, and D L Viljoen
J Med Genet 1991; 28: 413-414. doi:10.1136/jmg.28.6.413
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Maternal transmission of translocation 2;21 associated with Down's syndrome.
S V Kotwaliwale, V V Dicholkar, and N D Motashaw
J Med Genet 1991; 28: 415-416. doi:10.1136/jmg.28.6.415
[Abstract]
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Non-penetrance in tuberous sclerosis.
D W Webb and J P Osborne
J Med Genet 1991; 28: 417-419. doi:10.1136/jmg.28.6.417
[Abstract]
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A fertile male with cystic fibrosis: molecular genetic analysis.
C Barreto, L M Pinto, A Duarte, J Lavinha, and M Ramsay
J Med Genet 1991; 28: 420-421. doi:10.1136/jmg.28.6.420
[Abstract]
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Cranioectodermal dysplasia in sibs.
G D Lang and I D Young
J Med Genet 1991; 28: 424. doi:10.1136/jmg.28.6.424
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Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation.
J Nikolis, K Ivanovic, and V Diklic
J Med Genet 1991; 28: 425-426. doi:10.1136/jmg.28.6.425
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Translocation 19;Y in a child with Bannayan-Zonana phenotype.
J Israel, M Lessick, K Szego, and P Wong
J Med Genet 1991; 28: 427-428. doi:10.1136/jmg.28.6.427
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Genes for intelligence on the X chromosome.
G Turner and M W Partington
J Med Genet 1991; 28: 429. doi:10.1136/jmg.28.6.429
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X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28.
J P Fryns, A Spaepen, J J Cassiman, and H van den Berghe
J Med Genet 1991; 28: 429-431. doi:10.1136/jmg.28.6.429-a
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