AMERICAN JOURNAL OF MEDICAL GENETICS PART A

生物 遗传学

  • 影响指数:2.575
  • 中科院分区:生物 3区 生物 4 区
  • 审稿周期:平均2月
  • 自引率:15.3%
  • 录取率:75.%
  • ISSN:2190-572X
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  • 年文章数:454
  • 国人占比:2.2%
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  • 研究方向:遗传学;医学
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期刊简介

3 BIOTECH杂志暂不明确行业,暂不明确子行业的级别不明杂志

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建议

杂志水平一般,也很冷门,关注人少,审稿周期可能也不一定快,如果文章质量不佳,或时间不紧的话,可以考虑考虑。

Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.

DOI:10.1002/ajmg.a.62880

发表时间:2022 Jul 1

作者:Alecu JE;Ohmi Y;Bhuiyan RH;Inamori KI;Nitta T;Saffari A;Jumo H;Ziegler M;de Gusmao CM;Sharma N;Ohno S;Manabe N;Yamaguchi Y;Kambe M;Furukawa K;Sahin M;Inokuchi JI;Furakawa K;Ebrahimi-Fakhari D

Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.

DOI:10.1002/ajmg.a.62883

发表时间:2022 Jul 2

作者:Pacio-Miguez M;Parrón-Pajares M;Gordon CT;Santos-Simarro F;Rodríguez Jiménez C;Mena R;Rueda Arenas I;F Montaño VE;Fernández M;Solís M;Del Pozo Á;Amiel J;García-Miñaur S;Palomares-Bralo M

Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis.

DOI:10.1002/ajmg.a.62890

发表时间:2022 Jul 2

作者:Ho WY;Farrelly E;Stevenson DA

Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency.

DOI:10.1002/ajmg.a.62886

发表时间:2022 Jul 4

作者:Yuen L;Sahai I;O'Grady L;Selig M;Walker MA;Shah U;Misdraji J

Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I.

DOI:10.1002/ajmg.a.62891

发表时间:2022 Jul 4

作者:Murphey K;George PE;Pencheva B;Porter CC;Wechsler SB;Gambello MJ;Li H

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