Mueller RF - Search Results

1

al-Gazali LI, Farndon P, Burn J, Flannery DB, Davison C, Mueller RF. al-Gazali LI, et al. Among authors: mueller rf. J Med Genet. 1990 Jan;27(1):42-7. doi: 10.1136/jmg.27.1.42. J Med Genet. 1990. PMID: 2407846 Free PMC article. Review. No abstract available.

2

Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.

al-Gazali LI, Mueller RF, Caine A, Antoniou A, McCartney A, Fitchett M, Dennis NR. al-Gazali LI, et al. Among authors: mueller rf. J Med Genet. 1990 Jan;27(1):59-63. doi: 10.1136/jmg.27.1.59. J Med Genet. 1990. PMID: 2308157 Free PMC article.

3

The oculocerebrocutaneous (Delleman) syndrome.

al-Gazali LI, Donnai D, Berry SA, Say B, Mueller RF. al-Gazali LI, et al. Among authors: mueller rf. J Med Genet. 1988 Nov;25(11):773-8. doi: 10.1136/jmg.25.11.773. J Med Genet. 1988. PMID: 3148726 Free PMC article. No abstract available.

4

Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?

al-Gazali LI, Donnai D, Mueller RF. al-Gazali LI, et al. Among authors: mueller rf. J Med Genet. 1988 Nov;25(11):758-61. doi: 10.1136/jmg.25.11.758. J Med Genet. 1988. PMID: 3236354 Free PMC article.

5

Alagille syndrome and deletion of 20p.

Anad F, Burn J, Matthews D, Cross I, Davison BC, Mueller R, Sands M, Lillington DM, Eastham E. Anad F, et al. J Med Genet. 1990 Dec;27(12):729-37. doi: 10.1136/jmg.27.12.729. J Med Genet. 1990. PMID: 2074558 Free PMC article. Review.

6

Diagnostic and counselling difficulties using a fully comprehensive screening protocol for families at risk for tuberous sclerosis.

al-Gazali LI, Arthur RJ, Lamb JT, Hammer HM, Coker TP, Hirschmann PN, Gibbs J, Mueller RF. al-Gazali LI, et al. Among authors: mueller rf. J Med Genet. 1989 Nov;26(11):694-703. doi: 10.1136/jmg.26.11.694. J Med Genet. 1989. PMID: 2585469 Free PMC article.

7

Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.

Brown KA, al-Gazali LI, Moynihan LM, Lench NJ, Markham AF, Mueller RF. Brown KA, et al. Among authors: mueller rf. J Med Genet. 1997 Aug;34(8):685-7. doi: 10.1136/jmg.34.8.685. J Med Genet. 1997. PMID: 9279765 Free PMC article.

8

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.

Campbell DA, McHale DP, Brown KA, Moynihan LM, Houseman M, Karbani G, Parry G, Janjua AH, Newton V, al-Gazali L, Markham AF, Lench NJ, Mueller RF. Campbell DA, et al. Among authors: mueller rf. J Med Genet. 1997 Dec;34(12):1015-7. doi: 10.1136/jmg.34.12.1015. J Med Genet. 1997. PMID: 9429146 Free PMC article.

9

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

Pulleyn LJ, Jackson AP, Roberts E, Carridice A, Muxworthy C, Houseman M, Al-Gazali LI, Lench NJ, Markham AF, Mueller RF. Pulleyn LJ, et al. Among authors: mueller rf. Eur J Hum Genet. 2000 Dec;8(12):991-3. doi: 10.1038/sj.ejhg.5200567. Eur J Hum Genet. 2000. PMID: 11175289

10

A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms.

Houseman MJ, Jackson AP, Al-Gazali LI, Badin RA, Roberts E, Mueller RF. Houseman MJ, et al. Among authors: mueller rf. J Med Genet. 2001 Aug;38(8):E25. doi: 10.1136/jmg.38.8.e25. J Med Genet. 2001. PMID: 11483641 Free PMC article. No abstract available.

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