Dinucleotide repeat polymorphism for D1S70 (CRI-L461) on chromosome 1q41

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.

Clinical genetics·2010

Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.

Genetic counseling (Geneva, Switzerland)·2008

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

Human mutation·2008

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

Journal of medical genetics·2005

The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.

Genomics·2005

Epidural analgesia in gastrointestinal surgery.

The British journal of surgery·2004

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Human molecular genetics·2026

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

Human molecular genetics·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

Human molecular genetics·2026

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Human molecular genetics·2026

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Human molecular genetics·2026

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Frontiers in genetics·2026

Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.

Frontiers in pediatrics·2026

[Association analysis between dystrophin gene polymorphism and non-syndromic cleft lip with or without cleft palate].

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology·2026

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort.

Epilepsia·2026

Homozygous missense variants in CACNB4 underlie autosomal recessive epilepsy in two unrelated Pakistani consanguineous families.

Seizure·2026

Related Experiment Videos

Dinucleotide repeat polymorphism for D1S70 (CRI-L461) on chromosome 1q41

Related Concept Videos

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.

Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.

Epidural analgesia in gastrointestinal surgery.

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.

[Association analysis between dystrophin gene polymorphism and non-syndromic cleft lip with or without cleft palate].

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort.

Homozygous missense variants in CACNB4 underlie autosomal recessive epilepsy in two unrelated Pakistani consanguineous families.

Related Experiment Videos

Dinucleotide repeat polymorphism for D1S70 (CRI-L461) on chromosome 1q41

Related Concept Videos

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