Literature DB >> 4544753

[Editorial: Medical ethics in medical care services].

P Kassab.   

Abstract

Mesh：

Year:  1973        PMID： 4544753

Source DB:  PubMed          Journal:  AMB Rev Assoc Med Bras        ISSN： 0102-843X


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  68 in total

1.  Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.

Authors:  Melis Kose; Engin Kose; Aycan Ünalp; Ünsal Yılmaz; Selvinaz Edizer; Hande Gazeteci Tekin; Pakize Karaoğlu; Taha Reşid Özdemir; Esra Er; Hüseyin Onay; Eser Sozmen Yildirim
Journal:  Neurol Sci       Date:  2021-01-23       Impact factor: 3.307

2.  Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene.

Authors:  Gerard Frigola; Olga Gómez Del Rincón; Virginia Borobio Florián; Anna Vallmajó Fita; Berta Campos; Montse Pauta; Maria Segura Puimedon; Rafael Oliva; Antoni Borrell; Alfons Nadal
Journal:  Virchows Arch       Date:  2021-01-07       Impact factor: 4.064

3.  ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.

Authors:  Daniele Merico; Carl Spickett; Matthew O'Hara; Boyko Kakaradov; Amit G Deshwar; Phil Fradkin; Shreshth Gandhi; Jiexin Gao; Solomon Grant; Ken Kron; Frank W Schmitges; Zvi Shalev; Mark Sun; Marta Verby; Matthew Cahill; James J Dowling; Johan Fransson; Erno Wienholds; Brendan J Frey
Journal:  NPJ Genom Med       Date:  2020-04-08       Impact factor: 8.617

4.  Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.

Authors:  Tomoko Kaneyasu; Seiichi Mori; Hideko Yamauchi; Shozo Ohsumi; Shinji Ohno; Daisuke Aoki; Shinichi Baba; Junko Kawano; Yoshio Miki; Naomichi Matsumoto; Masao Nagasaki; Reiko Yoshida; Sadako Akashi-Tanaka; Takuji Iwase; Dai Kitagawa; Kenta Masuda; Akira Hirasawa; Masami Arai; Junko Takei; Yoshimi Ide; Osamu Gotoh; Noriko Yaguchi; Mitsuyo Nishi; Keika Kaneko; Yumi Matsuyama; Megumi Okawa; Misato Suzuki; Aya Nezu; Shiro Yokoyama; Sayuri Amino; Mayuko Inuzuka; Tetsuo Noda; Seigo Nakamura
Journal:  NPJ Breast Cancer       Date:  2020-06-12

5.  De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.

Authors:  Mitsuko Nakashima; Mitsuhiro Kato; Masaru Matsukura; Ryutaro Kira; Lock-Hock Ngu; Klaske D Lichtenbelt; Koen L I van Gassen; Satomi Mitsuhashi; Hirotomo Saitsu; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2020-04-27       Impact factor: 3.172

Review 6.  Pregnancy in catecholaminergic polymorphic ventricular tachycardia: therapeutic optimization and multidisciplinary care are key to success.

Authors:  Thomas M Roston; Jasmine Grewal; Andrew D Krahn
Journal:  Herzschrittmacherther Elektrophysiol       Date:  2021-04-21

7.  Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.

Authors:  Xingyu Xu; Panfeng Wang; Xiaoyun Jia; Wenmin Sun; Shiqiang Li; Xueshan Xiao; J Fielding Hejtmancik; Qingjiong Zhang
Journal:  Mol Genet Genomics       Date:  2021-04-21       Impact factor: 3.291

8.  A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein-Taybi Syndrome Phenotypes.

Authors:  Qingming Wang; Wanfang Xu; Yanhui Liu; Haiming Yuan
Journal:  J Mol Neurosci       Date:  2020-08-25       Impact factor: 3.444

9.  MYH7B variants cause hypertrophic cardiomyopathy by activating the CaMK-signaling pathway.

Authors:  Peng Chen; Zongzhe Li; Jiali Nie; Hong Wang; Bo Yu; Zheng Wen; Yang Sun; Xiaolu Shi; Li Jin; Dao-Wen Wang
Journal:  Sci China Life Sci       Date:  2020-03-17       Impact factor: 6.038

10.  Actionable co-alterations in breast tumors with pathogenic mutations in the homologous recombination DNA damage repair pathway.

Authors:  Arielle L Heeke; Joanne Xiu; Andrew Elliott; W Michael Korn; Filipa Lynce; Paula R Pohlmann; Claudine Isaacs; Sandra M Swain; Gregory Vidal; Lee S Schwartzberg; Antoinette R Tan
Journal:  Breast Cancer Res Treat       Date:  2020-08-10       Impact factor: 4.872
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