首页
OALib 期刊
快速投稿通道
我的图书馆
常见问题
关于我们
关注我们+
Biomedical & Life Sciences
Business & Economics
Chemistry & Materials Science
Computer Science & Communications
Engineering
Medicine & Healthcare
Physics & Mathematics
Social Sciences & Humanities
Biomedical & Life Sciences
Business & Economics
Chemistry & Materials Science
Computer Science & Communications
Engineering
Medicine & Healthcare
Physics & Mathematics
Social Sciences & Humanities
LinkedIn (OALib Group)
LinkedIn (OALib Company Page)
Facebook
Twitter
全部
标题
作者
关键词
摘要
OALib Journal期刊
ISSN: 2333-9721
费用：99美元
投递稿件
为什么选择我们？
>>
- 开源期刊
- 同行审议
- 快速出刊
- 终身存储
- 免费检索
- 免费推广
- 更多...
- 搜索引擎
-
ISSN Print: 2054-345X
ISSN Online:
主页:
https://www.nature.com/hgv
分享:
Go
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation
The CFTR gene variants in Japanese children with idiopathic pancreatitis
A novel variant in FN1 in a family with fibronectin glomerulopathy
Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis
Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure
Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1
A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia
A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants
A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome
A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
A novel compound heterozygous mutation in TTC8 identified in a Japanese patient
A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features
Discordant phenotype caused by CASK mutation in siblings with NF1
A new heterozygous compound mutation in the CTSA gene in galactosialidosis
Genetics of narcolepsy
A new case of spastic paraplegia type 64 due to a missense mutation in the ENTPD1 gene
A novel PHEX mutation associated with vitamin D-resistant rickets
(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty
A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6
Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation
Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome
A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
Long-range haplotype analysis of the malaria parasite receptor gene ACKR1 in an East-African population
Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy
A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer
Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation
A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease
Two novel mutations of COMP in Japanese boys with pseudoachondroplasia
Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families
Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report
A novel CUL7 mutation in a Japanese patient with 3M syndrome
Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients
Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism
Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome
Genitopatellar syndrome: the first reported case in Japan
A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia
Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter
Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
A novel 8-bp duplication in ADAT3 causes mild intellectual disability
Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis
Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome
Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction
A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome
Go
