Abnormalities of sexual differentiation in campomelic dwarfs

Development of the Critical Elements of Genetic Evaluation and Genetic Counseling for Genetic Professionals and Perinatologists in Washington State.

Journal of genetic counseling·2015

A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.

American journal of medical genetics. Part A·2008

Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes.

American journal of medical genetics. Part A·2006

An analysis of PAX1 in the development of vertebral malformations.

Clinical genetics·2005

Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: problems in differential diagnosis and genetic counseling.

American journal of medical genetics. Part A·2003

Mother to son transmission of del(1) (q42.1q42.3).

American journal of medical genetics·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

δ-Catenins couple cadherin adhesions to phospholipid-rich membrane domains.

bioRxiv : the preprint server for biology·2026

Static Friction of Liquid Marbles.

Physical review letters·2026

Physics-based forward modeling of edge diffraction scattering centers for complex coated scatterers.

Optics express·2026

Retraction notice to "Correlation between the particle size, structural and photoluminescence spectra of nano NiCr2O4 and La doped NiCr2O4 materials" [Heliyon 9 (2023) e21981].

Heliyon·2026

Emergent flocking dynamics in chemorepulsive active colloids: Interplay of disorder and noise.

The Journal of chemical physics·2026

Corrigendum to "Effect of water absorption of coarse aggregate on permeability, durability, and microstructure of concrete" [iScience 29 (2026) 116356].

iScience·2026

Related Experiment Videos

Abnormalities of sexual differentiation in campomelic dwarfs

Related Concept Videos

Development of the Critical Elements of Genetic Evaluation and Genetic Counseling for Genetic Professionals and Perinatologists in Washington State.

A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.

Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes.

An analysis of PAX1 in the development of vertebral malformations.

Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: problems in differential diagnosis and genetic counseling.

Mother to son transmission of del(1) (q42.1q42.3).

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.

δ-Catenins couple cadherin adhesions to phospholipid-rich membrane domains.

Static Friction of Liquid Marbles.

Physics-based forward modeling of edge diffraction scattering centers for complex coated scatterers.

Retraction notice to "Correlation between the particle size, structural and photoluminescence spectra of nano NiCr2O4 and La doped NiCr2O4 materials" [Heliyon 9 (2023) e21981].

Emergent flocking dynamics in chemorepulsive active colloids: Interplay of disorder and noise.

Corrigendum to "Effect of water absorption of coarse aggregate on permeability, durability, and microstructure of concrete" [iScience 29 (2026) 116356].

Related Experiment Videos

Abnormalities of sexual differentiation in campomelic dwarfs

Related Concept Videos

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