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journal of medical genetics

Indexings
ncbi ulakbim sci
Short Name j med genet
Abbreviated Name j med genet
ISSN 1468-6244
Aim and Scope
URL
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Publications Per Year

Recent Articles (3 total)

2019
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch, Aia Elise;Douard, Elise;Moreau, Clara;Van Dijck, Anke;Passeggeri, Marzia;Kooy, Frank;Puechberty, Jacques;Campbell, Carolyn;Sanlaville, Damien;Lefroy, Henrietta;Richetin, Sonia;Pain, Aurelie;Geneviève, David;Kini, Usha;Le Caignec, Cédric;Lespinasse, James;Skytte, Anne-Bine;Isidor, Bertrand;Zweier, Christiane;Caberg, Jean-Hubert;Delrue, Marie-Ange;Møller, Rikke Steensbjerre;Bojesen, Anders;Hjalgrim, Helle;Brasch-Andersen, Charlotte;Lemyre, Emmanuelle;Ousager, Lilian Bomme;Jacquemont, Sébastien;, ;
380 views DOI Abstract
2018
CM-Score: a validated scoring system to predict germline mutations in melanoma families from Northern Europe.
Potjer, Thomas P;Helgadottir, Hildur;Leenheer, Mirjam;van der Stoep, Nienke;Gruis, Nelleke A;Höiom, Veronica;Olsson, Håkan;van Doorn, Remco;Vasen, Hans F A;van Asperen, Christi J;Dekkers, Olaf M;Hes, Frederik J;, ;
Vol. 55 , No. 10 , pp. 661-668
245 views DOI Abstract
2019
pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
Hostetler, Ellen M;Regalado, Ellen S;Guo, Dong-Chuan;Hanna, Nadine;Arnaud, Pauline;Muiño-Mosquera, Laura;Callewaert, Bert Louis;Lee, Kwanghyuk;Leal, Suzanne M;Wallace, Stephanie E;Rideout, Andrea L;Dyack, Sarah;Aatre, Rajani D;Boileau, Catherine;De Backer, Julie;Jondeau, Guillaume;Milewicz, Dianna M;
Vol. 56 , No. 4 , pp. 252-260
225 views DOI Abstract
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