The trismus-pseudocampylodactyly syndrome

Renal magnesium wasting in two families with autosomal dominant inheritance.

Kidney international·1987

Hereditary congenital facial paralysis.

Scandinavian journal of plastic and reconstructive surgery·1986

An autosomal dominant type of congenital muscular dystrophy.

Brain & development·1986

[Hydrometrocolpos, polydactylia and congenital heart defect (the McKusick-Dungy-Kaufman syndrome)].

Tijdschrift voor kindergeneeskunde·1984

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.

Clinical genetics·1983

Progressive idiopathic strio-pallido-dentate calcinosis (Fahr's disease) with autosomal recessive inheritance. Report of three siblings.

European neurology·1983

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

Detuning and the excitation delay in photo-stimulated vibrational state transitions in HF under the classical field approximation.

Physical chemistry chemical physics : PCCP·2026

Normal thromboelastography with a markedly prolonged activated partial thromboplastin time in severe prekallikrein deficiency: Implications for perioperative hemostatic assessment.

Transfusion·2026

Quantum Systems at The Brink: Helium-Type Systems.

Archive for rational mechanics and analysis·2026

Electron spin-torsion coupling in open shell molecules displaying a large amplitude torsional motion.

The Journal of chemical physics·2026

Revisiting the Ratchet Principle: When Hidden Conservation Laws Prevent Directed Currents in Stochastic Systems.

Physical review letters·2026

Anti-PT symmetry with bound states in the continuum.

Light, science & applications·2026

Related Experiment Videos

The trismus-pseudocampylodactyly syndrome

Related Concept Videos

Renal magnesium wasting in two families with autosomal dominant inheritance.

Hereditary congenital facial paralysis.

An autosomal dominant type of congenital muscular dystrophy.

[Hydrometrocolpos, polydactylia and congenital heart defect (the McKusick-Dungy-Kaufman syndrome)].

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.

Progressive idiopathic strio-pallido-dentate calcinosis (Fahr's disease) with autosomal recessive inheritance. Report of three siblings.

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

Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability.

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

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

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

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

Detuning and the excitation delay in photo-stimulated vibrational state transitions in HF under the classical field approximation.

Normal thromboelastography with a markedly prolonged activated partial thromboplastin time in severe prekallikrein deficiency: Implications for perioperative hemostatic assessment.

Quantum Systems at The Brink: Helium-Type Systems.

Electron spin-torsion coupling in open shell molecules displaying a large amplitude torsional motion.

Revisiting the Ratchet Principle: When Hidden Conservation Laws Prevent Directed Currents in Stochastic Systems.

Anti-PT symmetry with bound states in the continuum.

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The trismus-pseudocampylodactyly syndrome

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