The principles and practice of genetic counseling

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Journal of medical genetics·2009

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Clinical genetics·2008

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.

Clinical genetics·2007

A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.

Journal of medical genetics·2005

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

Journal of medical genetics·2003

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

Clinical genetics·2003

Swallowing Rehabilitation with Motor Imagery in Patients Undergoing Radiation for Head & Neck Cancer: A Prospective Study.

The Annals of otology, rhinology, and laryngology·2026

Sociodemographic Analysis of Pediatric Patients Undergoing Repeat Tympanostomy Tube Placement.

The Annals of otology, rhinology, and laryngology·2026

Refining Prognostic Stratification in Head and Neck Paragangliomas: Insights from a SEER-Based Population Study.

The Annals of otology, rhinology, and laryngology·2026

Utility of Targeted Recruitment Methods to Study Age-Related Otolaryngology Conditions.

The Annals of otology, rhinology, and laryngology·2026

Esophageal Squamous Papilloma in the Practice of Otolaryngology: A Case Series and Diagnostic Considerations for the otolaryngologist.

The Annals of otology, rhinology, and laryngology·2026

Efficacy of Endoscopic Interventions for Subglottic Stenosis in Adults: A Systematic Review and Meta-Analysis.

The Annals of otology, rhinology, and laryngology·2026

QTL mapping.

Genetics·2026

Genetic Insights Into Retinitis Pigmentosa: A De Novo RPGR Mutation in an Iranian-Azeri Family.

Case reports in ophthalmological medicine·2026

Altered thalamo-prefrontal synchrony dynamics during spatial working memory task performance in a SETD1A loss-of-function mouse model of schizophrenia predisposition.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology·2026

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.

Regenerative therapy·2026

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Italian journal of pediatrics·2026

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Diabetes·2026

Related Experiment Videos

The principles and practice of genetic counseling

Related Concept Videos

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.

A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

Swallowing Rehabilitation with Motor Imagery in Patients Undergoing Radiation for Head & Neck Cancer: A Prospective Study.

Sociodemographic Analysis of Pediatric Patients Undergoing Repeat Tympanostomy Tube Placement.

Refining Prognostic Stratification in Head and Neck Paragangliomas: Insights from a SEER-Based Population Study.

Utility of Targeted Recruitment Methods to Study Age-Related Otolaryngology Conditions.

Esophageal Squamous Papilloma in the Practice of Otolaryngology: A Case Series and Diagnostic Considerations for the otolaryngologist.

Efficacy of Endoscopic Interventions for Subglottic Stenosis in Adults: A Systematic Review and Meta-Analysis.

QTL mapping.

Genetic Insights Into Retinitis Pigmentosa: A De Novo RPGR Mutation in an Iranian-Azeri Family.

Altered thalamo-prefrontal synchrony dynamics during spatial working memory task performance in a SETD1A loss-of-function mouse model of schizophrenia predisposition.

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Related Experiment Videos

The principles and practice of genetic counseling

Related Concept Videos

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