专题：Congenital limb and hand anomalies

This cluster of papers focuses on genetic and developmental studies of congenital limb anomalies, including polydactyly, syndactyly, and other malformations. It explores the genetic heterogeneity, mutations in CBP and EP300 genes, disruptions in Shh regulatory elements, upper extremity development, embryology, various classification systems, and epidemiological aspects related to limb anomalies.
最新文献
Leg Length Discrepancy in Patients With Lower Extremity Cutis Marmorata Telangiectatica Congenita: A Multicenter Retrospective Study

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The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature

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Influence of Bilateral Upper Limb Morphological Asymmetry on Grip Strength Related to Gender in Non-Athlete University Students

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Ultrasound-Guided Dextrose Hydrodissection for Mixed Sensory–Motor Wartenberg’s Syndrome Following a Healed Scaphoid Fracture: A Case Report

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Radiological outcome of early surgical fixation versus cast immobilization for adults with a scaphoid waist fracture: five-year follow-up of the Scaphoid Waist Internal Fixation for Fractures Trial

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Automated Segmentation and Length Measurement of Metacarpal and Phalangeal Bones for Hand Radiograph Evaluation

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Age-specific Contributions to Height in Boys with Klinefelter Syndrome: Analysis of Growth Using the QEPS Model

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Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

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Comminuted Transarticular Fracture of the Middle Phalanx: A Non-standard Surgical Procedure

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Detection of isolated fetal limb anomalies using 3D/4D ultrasound

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近5年高被引文献
Increased mutation and gene conversion within human segmental duplications

article Full Text OpenAlex 107 FWCI33.9895

Learning Meta Pattern for Face Anti-Spoofing

article Full Text OpenAlex 81 FWCI11.9048

Limb development genes underlie variation in human fingerprint patterns

article Full Text OpenAlex 63 FWCI8.8112

Limb development genes underlie variation in human fingerprint patterns

article Full Text OpenAlex 54 FWCI4.6842

The BAF A12T mutation disrupts lamin A/C interaction, impairing robust repair of nuclear envelope ruptures in Nestor–Guillermo progeria syndrome cells

article Full Text OpenAlex 40 FWCI3.2995

Sonic hedgehog is not a limb morphogen but acts as a trigger to specify all digits in mice

article Full Text OpenAlex 38 FWCI3.2126

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

article Full Text OpenAlex 36 FWCI18.8351

Bioengineered human tissue regeneration and repair using endogenous stem cells

article Full Text OpenAlex 34 FWCI10.6218

A chromatin code for limb segment identity in axolotl limb regeneration

article Full Text OpenAlex 33 FWCI8.2518

Pectus excavatum and carinatum: a narrative review of epidemiology, etiopathogenesis, clinical features, and classification

review Full Text OpenAlex 29 FWCI17.2106