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European journal of medical genetics

ISSN 1878-0849· EN

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41.7/100
Journament Score
#4,593
Journament Rank
7
Articles Indexed

About This Journal

Short Name Eur J Med Genet
Abbreviated Name eur j med genet
ISSN 1878-0849

Indexings

ncbi ulakbim sci

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Publications Per Year

Articles (7)

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
334 views DOI
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
322 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
320 views DOI Abstract
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
314 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
299 views DOI Abstract
2019
Sex chromosomes-linked single-gene disorders involved in human infertility
Jedidi, I.
Vol. 62 , pp. 0-0
292 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
239 views DOI Abstract
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
239 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
322 views DOI Abstract
2019
Sex chromosomes-linked single-gene disorders involved in human infertility
Jedidi, I.
Vol. 62 , pp. 0-0
292 views DOI
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
320 views DOI Abstract
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
334 views DOI
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
299 views DOI Abstract
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
314 views DOI Abstract
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Overall Quality Score

41.7/100

Tier: Below Average

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Engagement Score

30.4/100

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Accessibility Score

15.0/100

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Diversity Score

30.0/100

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Innovation Score

40.0/100

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Community Impact Score

32.5/100

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50.0/100

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0.0/100

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0.0/100

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0.0/100

Author Diversity + Interdisciplinary Value (8%)

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Publication Regularity Score

0.0/100

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Geographic Reach Score

0.0/100

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