A boy with thanatophoric dysplasia surviving 212 days

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

Journal of medical genetics·2010

Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment.

American journal of medical genetics. Part A·2005

No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients.

American journal of medical genetics·2001

Induction of apoptosis in melanoma cell lines by p53 and its related proteins.

The Journal of investigative dermatology·2001

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Clinical genetics·2026

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

Highly Chiral MoS2 Flakes With Redox-Active Centers for Spin Selective Water Oxidation.

Small science·2026

Cavity-arbitrated enantioinduction by calix[4]arene-annexed BINOL catalysts for cyanosilylation of aldehydes.

Chemical communications (Cambridge, England)·2026

C-S bond formation through nucleophilic substitution reaction of thiol derivatives with activated aryl halides.

iScience·2026

Mechanism and origin of stereoselectivity in an NHC-catalyzed [4 + 2] annulation between an activated ester and a β-borate enone.

Organic & biomolecular chemistry·2026

Electrochemical Cross-Coupling of Electron-Deficient Olefins.

Journal of the American Chemical Society·2026

Copper-Catalyzed Enantioselective Vinylogous Hydroxylation with Nitrosobenzene.

Journal of the American Chemical Society·2026

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A boy with thanatophoric dysplasia surviving 212 days

Related Concept Videos

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment.

No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients.

Induction of apoptosis in melanoma cell lines by p53 and its related proteins.

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

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.

Highly Chiral MoS2 Flakes With Redox-Active Centers for Spin Selective Water Oxidation.

Cavity-arbitrated enantioinduction by calix[4]arene-annexed BINOL catalysts for cyanosilylation of aldehydes.

C-S bond formation through nucleophilic substitution reaction of thiol derivatives with activated aryl halides.

Mechanism and origin of stereoselectivity in an NHC-catalyzed [4 + 2] annulation between an activated ester and a β-borate enone.

Electrochemical Cross-Coupling of Electron-Deficient Olefins.

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A boy with thanatophoric dysplasia surviving 212 days

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