Mild expression of the Pfeiffer syndrome

Preservation of erniettomorph fossils in clay-rich siliciclastic deposits from the Ediacaran Wood Canyon Formation, Nevada.

Interface focus·2020

The early history of Pallister-Hall syndrome-Buried treasure of a sort.

Gene·2016

Biliglobulin: a new look at IgA.

Immunology today·2014

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Clinical genetics·2013

Absence of binding of alpha-bungarotoxin and cobra neurotoxin to central acetylcholine receptors - an autoradiographic study.

Neuroscience letters·2009

The importance of the fetal origins of adult disease for geneticists.

Clinical genetics·2007

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Clinical genetics·2026

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Clinical genetics·2026

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Clinical genetics·2026

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical genetics·2026

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Clinical genetics·2026

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Clinical genetics·2026

Commentary on "Amelanotic Melanoma With Features of Keratinocytic Tumor on Reflectance Confocal Microscopy".

Journal of cutaneous pathology·2026

An Unusual Presentation of Dermatofibrosarcoma Protuberans (DFSP): The Role of Advanced Molecular Testing in Collagen Type I Alpha 1 Chain (COL1A1)-Negative Cases.

Cureus·2026

Paucibacillary Tuberculous Meningitis with Clinical-Radiological Dissociation: A Diagnostic Challenge.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases·2026

A rare invader on a cardiac stent: Mycobacterium abscessus mediastinitis managed with tedizolid after linezolid intolerance.

IDCases·2026

Delayed presentation of retrocecal appendicitis in a low-resource setting causing necrotizing lumbar infection and spontaneous colocutaneous fistula: a case report.

Journal of surgical case reports·2026

Cluster of imported cutaneous leishmaniasis due to Leishmania major among travellers returning from central Tunisia, France, October 2025 to May 2026.

Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin·2026

Related Experiment Videos

Mild expression of the Pfeiffer syndrome

Related Concept Videos

Preservation of erniettomorph fossils in clay-rich siliciclastic deposits from the Ediacaran Wood Canyon Formation, Nevada.

The early history of Pallister-Hall syndrome-Buried treasure of a sort.

Biliglobulin: a new look at IgA.

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Absence of binding of alpha-bungarotoxin and cobra neurotoxin to central acetylcholine receptors - an autoradiographic study.

The importance of the fetal origins of adult disease for geneticists.

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Commentary on "Amelanotic Melanoma With Features of Keratinocytic Tumor on Reflectance Confocal Microscopy".

An Unusual Presentation of Dermatofibrosarcoma Protuberans (DFSP): The Role of Advanced Molecular Testing in Collagen Type I Alpha 1 Chain (COL1A1)-Negative Cases.

Paucibacillary Tuberculous Meningitis with Clinical-Radiological Dissociation: A Diagnostic Challenge.

A rare invader on a cardiac stent: Mycobacterium abscessus mediastinitis managed with tedizolid after linezolid intolerance.

Delayed presentation of retrocecal appendicitis in a low-resource setting causing necrotizing lumbar infection and spontaneous colocutaneous fistula: a case report.

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Mild expression of the Pfeiffer syndrome

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