Results 241 to 250 of about 1,216,010 (297)

Oncogenetic testing and follow-up for women with familial breast/ovarian cancer, Li-Fraumeni syndrome and Cowden syndrome [PDF]

, 2015
't Kint de Roodenbeke, Daphné, Berlière, Martine, Claes, Kathleen, Hulstaert, Frank, Janin, Nicolas, Matthijs, Gert, Poppe, Bruce, Robays, Jo, Stordeur, Sabine, Van Maerken, Tom, Wildiers, Hans   +10 more
core  

Integration of medical genetics and genomics into faculty development programs in india: assessment of success and experience of genetic research centre. [PDF]

J Community Genet
Joseph S, Minde N, Babu S, Gawde H, Naik C, Bhanothu V, Sudhakar D, Bharankar J, Agarbattiwala T, Kumar A, Sachdeva G, Mahale SD, Pande S.   +12 more
europepmc   +1 more source

Correction: Tummolo et al. Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives. <i>Pediatr. Rep.</i> 2026, <i>18</i>, 14. [PDF]

Pediatr Rep
Tummolo A, Ponzi E, Simonetti S, Gentile M.   +3 more
europepmc   +1 more source

Mondo: integrating disease terminology across communities. [PDF]

Genetics
Vasilevsky NA, Toro S, Matentzoglu N, Flack JE, Mullen KR, Hegde H, Gehrke S, Whetzel PL, Shwetar Y, Harris NL, Ngu MS, Alyea GL, Kane MS, Roncaglia P, Sid E, Thaxton CL, Wood V, Abraham RS, Achatz MI, Ajuyah P, Amberger JS, Babb L, Baker J, Balhoff JP, Berg JS, Bhalla A, Bofill-De Ros X, Braun IR, Broeren EC, Byer BK, Byrne AB, Callahan TJ, Carmody LC, Chan LE, Clause AR, Cohen JS, DeLuca M, Deuitch NT, Flowers M, Fraser J, Fujiwara T, Gitau V, Goldstein JL, Gration D, Groza T, Gyori BM, Hankey W, Hilton JA, Himmelstein DS, Hong SS, Hoyt CT, Huether R, Hurwitz E, Jacobsen JOB, Kikuchi A, Köhler S, Korn DR, Lagorce D, Laraway BJ, Li JY, Malheiro AJ, McLaughlin J, Meldal BHM, Mohan S, Moxon SAT, Munoz-Torres MC, Nelson TH, Nicholas FW, Ochoa D, Olson D, Oprea TI, Oskotsky TT, Osumi-Sutherland D, Paris K, Parkinson HE, Pendlington ZM, Peng XP, Pizzino A, Plon SE, Powell BC, Ratliff JC, Rehm HL, Remennik L, Riggs ER, Roberts S, Robinson PN, Ross JE, Schaper K, Schilder BM, Schmidt JL, Sharp EW, Similuk MN, Smedley D, Sneddon TP, Sparks R, Stefancsik R, Stupp GS, Sundar S, Takatsuki T, Tammen I, Tshering KC, Unni DR, Valasek E, Vanderver A, Wagner AH, Webb RF, Welter D, Yaya-Stupp D, Zankl A, Zhang XA, McMurry JA, Chute CG, Hamosh A, Mungall CJ, Haendel MA.   +114 more
europepmc   +1 more source

Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study. [PDF]

BMJ Open
Assamad D, Hansen A, Fooks K, Luca S, Venkataramanan V, Hsue E, Shickh S, Yan J, Wu V, Badalato L, Balci TB, Beausejour Ladouceur V, Chad L, Chisholm C, Gillespie MK, Huang L, Jarinova O, Lau L, Lee W, Mackley MP, Marshall CR, Mendoza-Londono R, Morel CF, Richer J, Sawyer S, Stavropoulos DJ, Szuto A, Tarnopolsky M, Villani A, Zahavich L, Somerville MJ, Boycott KM, Ungar WJ, Hayeems RZ.   +33 more
europepmc   +1 more source

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Clinical mitochondrial genetics

Journal of Medical Genetics, 1999
The last decade has been an age of enlightenment as far as mitochondrial pathology is concerned. Well established nuclear genetic diseases, such as Friedreich’s ataxia,1 2 Wilson disease,3 and autosomal recessive hereditary spastic paraplegia,4 have been shown to have a mitochondrial basis, and we are just starting to unravel the ...
P F, Chinnery, N, Howell, R M, Andrews, D M, Turnbull   +3 more
openaire   +2 more sources