Two cases of Townes-Brocks syndrome with previously undescribed anomalies

Transient disappearance of otoacoustic emissions after conventional hearing aid use in OTOF-related auditory neuropathy.

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Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.

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Interparticle Forces of a Native and Encapsulated Metal-Organic Framework and Their Effects on Colloidal Dispersion.

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Monochorionic dizygotic twins with discordant genetic findings and congenital malformations.

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Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

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Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

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Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.

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The genome sequence of the Bluebell moth, Eana incanana (Stephens, 1852) (Lepidoptera: Tortricidae).

Wellcome open research·2026

Co-Heredity of (-α)20.5 Deletion and IVS I-1 G > A (HBB: C.92 + 1 G > A) Mutations in a Pediatric Patient: A Cause of Moderate Anemia Phenotype?

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Journal of the American Heart Association·2026

Related Experiment Videos

Two cases of Townes-Brocks syndrome with previously undescribed anomalies

Related Concept Videos

Transient disappearance of otoacoustic emissions after conventional hearing aid use in OTOF-related auditory neuropathy.

Azacitidine-venetoclax versus azacitidine salvage treatment for primary induction failure or first relapsed acute myeloid leukaemia patients.

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Related Experiment Videos

Two cases of Townes-Brocks syndrome with previously undescribed anomalies

Abstract:

Related Concept Videos

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