The study of genetic diseases and malformations

[Stones in the lower pole and their treatment].

Urologie (Heidelberg, Germany)·2025

Cyclic mechanical loading of photopolymerized methacrylated hydrogels for probing interdependent effects of strain, stiffness, and substrate composition in pulmonary fibrogenesis.

Scientific reports·2025

A comparative study of fetal cardiovascular assessment: utilizing Doppler ultrasound gated MRI and echocardiography with detailed analysis using five axial views.

Frontiers in cardiovascular medicine·2024

A new certified reference material IAEA-465 for radionuclides in Baltic Sea sediment.

Journal of environmental radioactivity·2024

[Urinary diversion in old patients (80+ years)].

Urologie (Heidelberg, Germany)·2024

Comparison of endoscopic versus CT assessment of stone-free status after percutaneous nephrolithotomy (PCNL).

Urolithiasis·2023

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Birth defects original article series·1996

Multisite neural tube closure in humans.

Birth defects original article series·1996

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Italian journal of pediatrics·2026

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Diabetes·2026

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

Frontiers in genetics·2026

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Journal of biomedical science·2026

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

BMC medical genomics·2026

The first 25 years of the NICHD Structural Birth Defects Initiative.

Developmental biology·2026

Related Experiment Videos

The study of genetic diseases and malformations

Related Concept Videos

[Stones in the lower pole and their treatment].

Cyclic mechanical loading of photopolymerized methacrylated hydrogels for probing interdependent effects of strain, stiffness, and substrate composition in pulmonary fibrogenesis.

A comparative study of fetal cardiovascular assessment: utilizing Doppler ultrasound gated MRI and echocardiography with detailed analysis using five axial views.

A new certified reference material IAEA-465 for radionuclides in Baltic Sea sediment.

[Urinary diversion in old patients (80+ years)].

Comparison of endoscopic versus CT assessment of stone-free status after percutaneous nephrolithotomy (PCNL).

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Multisite neural tube closure in humans.

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

The first 25 years of the NICHD Structural Birth Defects Initiative.

Related Experiment Videos

The study of genetic diseases and malformations

Related Concept Videos

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