The tirsomy 8 syndrome: two additional mosaic cases

Education and testing strategy for large-scale cystic fibrosis carrier screening.

Journal of genetic counseling·2013

Safety of zoster vaccine in adults from a large managed-care cohort: a Vaccine Safety Datalink study.

Journal of internal medicine·2011

Risk of anaphylaxis after vaccination of children and adolescents.

Pediatrics·2003

Prospective, randomized, placebo-controlled evaluation of the safety and immunogenicity of three lots of intranasal trivalent influenza vaccine among young children.

The Pediatric infectious disease journal·2001

Childhood vaccinations, vaccination timing, and risk of type 1 diabetes mellitus.

Pediatrics·2001

Safety and immunogenicity of a pentavalent diphtheria, tetanus, pertussis, hepatitis B and polio combination vaccine in infants.

The Pediatric infectious disease journal·2001

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.

Journal of medical genetics·2026

Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability.

Journal of medical genetics·2026

Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Journal of medical genetics·2026

Functional characterisation and pathological significance of variants of MEF2C promoter in tetralogy of Fallot.

Journal of medical genetics·2026

Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability.

Journal of medical genetics·2026

Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

Journal of medical genetics·2026

Quantitative three-dimensional fracture mapping reveals subtype-specific morphology of acetabular roof column and wall fractures.

Frontiers in surgery·2026

Implant Survivorship, Radiographic Evaluation, and Clinical Outcomes of Radial Head Arthroplasty Using The Depuy Synthes Radial Head Replacement System.

The Iowa orthopaedic journal·2026

Microinvasive Mid-Lower Facial Rejuvenation: Soft Tissue Reposition Grounded in Fat Compartments Gliding Theory.

The Journal of craniofacial surgery·2026

The Use of PSI in RSA is Unnecessary in Cases of Limited Glenoid Deformation.

Orthopaedics & traumatology, surgery & research : OTSR·2026

Reconstruction of the Burned Nose Using an Expanded Skin-Grafted Forehead Flap, Delayed Turnover Flaps, and Indocyanine Green Perfusion Assessment.

Journal of burn care & research : official publication of the American Burn Association·2026

Clinical outcome 24 months after cervical disc arthroplasty with a new articulating and viscoelastic disc prosthesis.

Journal of spine surgery (Hong Kong)·2026

Related Experiment Videos

The tirsomy 8 syndrome: two additional mosaic cases

Related Concept Videos

Education and testing strategy for large-scale cystic fibrosis carrier screening.

Safety of zoster vaccine in adults from a large managed-care cohort: a Vaccine Safety Datalink study.

Risk of anaphylaxis after vaccination of children and adolescents.

Prospective, randomized, placebo-controlled evaluation of the safety and immunogenicity of three lots of intranasal trivalent influenza vaccine among young children.

Childhood vaccinations, vaccination timing, and risk of type 1 diabetes mellitus.

Safety and immunogenicity of a pentavalent diphtheria, tetanus, pertussis, hepatitis B and polio combination vaccine in infants.

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.

Frequent <i>FBN2</i> variants in pectus excavatum highlight underlying phenotypic variability.

Longest surviving patient with a homozygous splice-altering <i>EGFR</i> pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Functional characterisation and pathological significance of variants of <i>MEF2C</i> promoter in tetralogy of Fallot.

Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability.

Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

Quantitative three-dimensional fracture mapping reveals subtype-specific morphology of acetabular roof column and wall fractures.

Implant Survivorship, Radiographic Evaluation, and Clinical Outcomes of Radial Head Arthroplasty Using The Depuy Synthes Radial Head Replacement System.

Microinvasive Mid-Lower Facial Rejuvenation: Soft Tissue Reposition Grounded in Fat Compartments Gliding Theory.

The Use of PSI in RSA is Unnecessary in Cases of Limited Glenoid Deformation.

Reconstruction of the Burned Nose Using an Expanded Skin-Grafted Forehead Flap, Delayed Turnover Flaps, and Indocyanine Green Perfusion Assessment.

Clinical outcome 24 months after cervical disc arthroplasty with a new articulating and viscoelastic disc prosthesis.

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The tirsomy 8 syndrome: two additional mosaic cases

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