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OALib Journal期刊
ISSN: 2333-9721
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ISSN Print: 2054-345X

ISSN Online:

主页: https://www.nature.com/hgv

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A new case of spastic paraplegia type 64 due to a missense mutation in the ENTPD1 gene

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 splicing mutation in SLC9A6 in a boy with Christianson syndrome

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 new heterozygous compound mutation in the CTSA gene in galactosialidosis

A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia

A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features

Discordant phenotype caused by CASK mutation in siblings with NF1

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

A novel PHEX mutation associated with vitamin D-resistant rickets

(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty

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 pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6

Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy

Genetics of narcolepsy

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

Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis

Lack of association between PER3 variable number tandem repeat and circadian rhythm sleep–wake disorders

Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients

eLD: entropy-based linkage disequilibrium index between multiallelic sites

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

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

Long-range haplotype analysis of the malaria parasite receptor gene ACKR1 in an East-African population

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

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

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

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy

Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families

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

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

Two novel mutations of COMP in Japanese boys with pseudoachondroplasia

A novel 8-bp duplication in ADAT3 causes mild intellectual disability

©2008-2017 OALib, Inc | Public user content licensed CC-BY 4.0 unless otherwise specified. OALib ISSN Online: 2333-9721 OALib ISSN Print: 2333-9705