A--familial proximal focal femoral deficiency (PFFD)

Cervical spine anomalies and tumors in Weaver syndrome.

American journal of medical genetics·2001

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

Nature genetics·2001

Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.

American journal of medical genetics·2000

Spinal muscular atrophy variant with congenital fractures.

American journal of medical genetics·1999

Chondrodysplasia punctata stemming from maternal lupus erythematosus.

American journal of medical genetics·1999

Extension of phenotype associated with structural mutations in type I collagen: siblings with juvenile osteoporosis have an alpha2(I)Gly436 --> Arg substitution.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research·1999

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

PTEN-Long-mediated molecular therapy: current evidences and future perspectives.

Biochemical pharmacology·2026

A structured three-step reduction strategy for locked posterior fracture-dislocation of the proximal humerus through a standard deltopectoral approach: A retrospective case series.

Injury·2026

3D ultrasonography reveals a twisted proximal aponeurosis within the biceps femoris long head.

European journal of applied physiology·2026

Association between phosphorus intake and wrist fracture: the mediating role of bone mineral density.

Food & nutrition research·2026

Role of Denosumab in Chronic Kidney Disease with Paget's Disease of Bone: A Case Report and Review of Literature.

Journal of orthopaedic case reports·2026

Incremental value of prostate-specific antigen density beyond PI-RADS and conventional MRI features for predicting the highest ISUP grade group in patients with prostate cancer diagnosed at initial systematic prostate biopsy.

American journal of cancer research·2026

Related Experiment Videos

A--familial proximal focal femoral deficiency (PFFD)

Related Concept Videos

Cervical spine anomalies and tumors in Weaver syndrome.

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.

Spinal muscular atrophy variant with congenital fractures.

Chondrodysplasia punctata stemming from maternal lupus erythematosus.

Extension of phenotype associated with structural mutations in type I collagen: siblings with juvenile osteoporosis have an alpha2(I)Gly436 --> Arg substitution.

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Multisite neural tube closure in humans.

PTEN-Long-mediated molecular therapy: current evidences and future perspectives.

A structured three-step reduction strategy for locked posterior fracture-dislocation of the proximal humerus through a standard deltopectoral approach: A retrospective case series.

3D ultrasonography reveals a twisted proximal aponeurosis within the biceps femoris long head.

Association between phosphorus intake and wrist fracture: the mediating role of bone mineral density.

Role of Denosumab in Chronic Kidney Disease with Paget's Disease of Bone: A Case Report and Review of Literature.

Incremental value of prostate-specific antigen density beyond PI-RADS and conventional MRI features for predicting the highest ISUP grade group in patients with prostate cancer diagnosed at initial systematic prostate biopsy.

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A--familial proximal focal femoral deficiency (PFFD)

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