European journal of medical genetics | Journament

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European journal of medical genetics

Indexings
ncbi ulakbim sci
Short Name Eur J Med Genet
Abbreviated Name eur j med genet
ISSN 1878-0849
Aim and Scope
URL
Author Instructions

Publications Per Year

Recent Articles (7 total)

2019
Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform
Treff, N.
Vol. 62 , pp. 0-0
266 views DOI
2019
A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome.
Verhoeven, Willem M A;Egger, Jos I M;de Leeuw, Nicole;
, pp. 103751
256 views DOI Abstract
2019
Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population.
Salehi Chaleshtori, Ahmad Reza;Garshasbi, Masoud;Salehi, Ali;Noruzinia, Mehrdad;
, pp. 103750
255 views DOI Abstract
2019
Clinical outcomes after the transfer of blastocysts characterized as mosaic by high resolution Next Generation Sequencing- further insights.
Munné, Santiago;Spinella, Francesca;Grifo, Jamie;Zhang, John;Beltran, Monica Parriego;Fragouli, Elpida;Fiorentino, Francesco;
, pp. 103741
251 views DOI Abstract
2019
A successful treatment of tadalafil in incontinentia pigmenti with pulmonary hypertension.
Mizuno, Masanori;Aso, Kentaro;Tsuzuki, Yoshimitsu;Kitazawa, Tomoko;Migita, Ohsuke;Hokuto, Isamu;Yamamoto, Hitoshi;
, pp. 103764
246 views DOI Abstract
2019
Sex chromosomes-linked single-gene disorders involved in human infertility
Jedidi, I.
Vol. 62 , pp. 0-0
237 views DOI
2022
A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndrome.
Legrand, Clémentine;Lebrun, Marine;Naïbo, Pierre;Peysselon, Magalie;Prieur, Fabienne;Kientz, Caroline;Desseigne, Françoise;Handallou, Sandrine;Rey, Jean-Marc;Nambot, Sophie;Goussot, Vincent;Hamzaoui, Nadim;Wang, Qing;
Vol. 65 , No. 2 , pp. 104409
174 views DOI Abstract
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