XY translocation in a boy with ichthyosis, hypogonadism, short stature and mental retardation

Randomized phase III study of bevacizumab plus FOLFIRI and bevacizumab plus mFOLFOX6 as first-line treatment for patients with metastatic colorectal cancer (WJOG4407G).

Annals of oncology : official journal of the European Society for Medical Oncology·2016

Synthesis and structure of a vesicular assembly of dialkylammonium-type amphiphile carrying L-3-(3-N-ethylcarbazolyl)alanine.

Amino acids·2013

Submucosal tumor appearance is a useful endoscopic predictor of early primary-site recurrence after definitive chemoradiotherapy for esophageal squamous cell carcinoma.

Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus·2010

Photocatalytic degradation of gaseous perchloroethylene: products and pathway.

Chemosphere·2000

Molecular analysis of aberrant expression of aromatase in breast cancer tissues.

Breast cancer research and treatment·1998

[Analysis of Mycobacterium tuberculosis-derived substance which induces interleukin-12 production from macrophages].

Kekkaku : [Tuberculosis]·1998

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

Clinical genetics·2026

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome.

Clinical genetics·2026

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans.

Clinical genetics·2026

Müllerian Duct Aplasia in a Girl With SMARCB1-Related Coffin-Siris Syndrome: A Rare Co-Occurring Anomaly.

Clinical genetics·2026

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

Clinical genetics·2026

Liquid Biopsy and Multi-Cancer Early Detection Tests for Cancer Screening: A Scoping Review.

Clinical genetics·2026

Biallelic CYB5A disruptions in 46, XY DSD: Novel missense and deep intronic variants.

The Journal of clinical endocrinology and metabolism·2026

Sex-related phenotypic differences in myotonic dystrophy types 1 and 2: a nationwide registry study from Serbia.

Journal of neurology·2026

Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).

European journal of human genetics : EJHG·2026

Beyond the fly: fusome conservation and its implications for germ cell biology.

Current opinion in cell biology·2026

Using Digital Twins to Predict Recovery and Decline in Neurological Disorders.

IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society·2026

Characteristics and clinical outcomes of Denys-Drash syndrome: a systematic review of case reports and case series.

Pediatric nephrology (Berlin, Germany)·2026

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XY translocation in a boy with ichthyosis, hypogonadism, short stature and mental retardation

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Randomized phase III study of bevacizumab plus FOLFIRI and bevacizumab plus mFOLFOX6 as first-line treatment for patients with metastatic colorectal cancer (WJOG4407G).

Synthesis and structure of a vesicular assembly of dialkylammonium-type amphiphile carrying L-3-(3-N-ethylcarbazolyl)alanine.

Submucosal tumor appearance is a useful endoscopic predictor of early primary-site recurrence after definitive chemoradiotherapy for esophageal squamous cell carcinoma.

Photocatalytic degradation of gaseous perchloroethylene: products and pathway.

Molecular analysis of aberrant expression of aromatase in breast cancer tissues.

[Analysis of Mycobacterium tuberculosis-derived substance which induces interleukin-12 production from macrophages].

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

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Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

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Sex-related phenotypic differences in myotonic dystrophy types 1 and 2: a nationwide registry study from Serbia.

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XY translocation in a boy with ichthyosis, hypogonadism, short stature and mental retardation

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