Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

48 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
A new case of Myhre syndrome.
Whiteford ML, Doig WB, Raine PA, Hollman AS, Tolmie JL. Whiteford ML, et al. Clin Dysmorphol. 2001 Apr;10(2):135-40. doi: 10.1097/00019605-200104000-00011. Clin Dysmorphol. 2001. PMID: 11310994 Review.
Towards earlier diagnosis of 22q11 deletions.
Tobias ES, Morrison N, Whiteford ML, Tolmie JL. Tobias ES, et al. Among authors: whiteford ml. Arch Dis Child. 1999 Dec;81(6):513-4. doi: 10.1136/adc.81.6.513. Arch Dis Child. 1999. PMID: 10569971 Free PMC article.
The phenotype of Floating-Harbor syndrome in 10 patients.
White SM, Morgan A, Da Costa A, Lacombe D, Knight SJ, Houlston R, Whiteford ML, Newbury-Ecob RA, Hurst JA. White SM, et al. Among authors: whiteford ml. Am J Med Genet A. 2010 Apr;152A(4):821-9. doi: 10.1002/ajmg.a.33294. Am J Med Genet A. 2010. PMID: 20358590
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Rivière JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J. Bruel AL, et al. J Med Genet. 2017 Dec;54(12):830-835. doi: 10.1136/jmedgenet-2017-104748. Epub 2017 Oct 26. J Med Genet. 2017. PMID: 29074562
Clinical features and respiratory complications in Myhre syndrome.
McGowan R, Gulati R, McHenry P, Cooke A, Butler S, Keng WT, Murday V, Whiteford M, Dikkers FG, Sikkema-Raddatz B, van Essen T, Tolmie J. McGowan R, et al. Eur J Med Genet. 2011 Nov-Dec;54(6):e553-9. doi: 10.1016/j.ejmg.2011.07.001. Epub 2011 Jul 21. Eur J Med Genet. 2011. PMID: 21816239
48 results