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The Journal of Medical Genetics accepts submissions of a wide range of article types, including original research, review and short reports.

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Novel disease loci:

Biallelic mutations in the ios歪p恩 gene cause a novel primary ciliopathy

Genotype-phenotype correlations:

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

Developmental defects:

Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms

Novel disease loci:

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis

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Genotype-phenotype correlations:

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

Diagnostics:

Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients

Genotype-phenotype correlations:

A in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

Phenotypes:

把电脑的smb共享到公网上到转发哪几个端口？ - 电脑讨论 ...:2021-9-3 · 把电脑的smb共享到公网上到转发哪几个端口？,想把家里所有人用的电脑的文件都汇总做一个带备份的主机共享给他们用，局域网很轻松就能共享但是公网要如何才能把smb转发出去呢？目前我只成功转发了3389的远程连接， ...,电脑讨论,讨论区-技术与经验的讨论 ,Chiphell - 分享与交流用户体验

Developmental defects:

SUPERSTAR PLEDIS - 预约下载 | TapTap 发现好游戏:2021-8-19 · 下载个歪p恩打开，然后再进TapTap 就有了 2021-08-07 17:02:56 回复 봉명 ♛意中人|╅Lie丶网页中可以下载歪P恩不 ... iOS SUPERSTAR PLEDIS 9.6 PLEDIS Entertainment偶像大集合！以節详情将下方的代码复制并 ...

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Cancer genetics:

Variants in reveal distinct mechanisms for predisposition to papillary thyroid carcinoma

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primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

Ethics and policy:

Impacts of genomics on the health and social costs of intellectual disability

Genotype-phenotype correlations:

Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia

Cancer genetics:

as a candidate high-penetrance melanoma susceptibility gene

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