Chromosome breakage in control and fragile X subjects using folate-deficient culture conditions

Obestatin and adropin in Prader-Willi syndrome and nonsyndromic obesity: Associations with weight, BMI-z, and HOMA-IR.

Pediatric obesity·2018

Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults.

Clinical genetics·2017

Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.

Journal of intellectual disability research : JIDR·2017

Examination of Global Methylation and Targeted Imprinted Genes in Prader-Willi Syndrome.

Journal of clinical epigenetics·2017

EVALUATION OF PLASMA SUBSTANCE P AND BETA-ENDORPHIN LEVELS IN CHILDREN WITH PRADER-WILLI SYNDROME.

The Journal of rare disorders·2016

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.

Journal of endocrinological investigation·2015

Polygenic risk scores in human genetics for study design discovery and translation.

Human genetics·2026

Genetic variation in BDNF is associated with opioid use disorder severity.

Human genetics·2026

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.

Human genetics·2026

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Human genetics·2026

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Human genetics·2026

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

Human genetics·2026

A Silver-Zeolite Spray Powder for Pressure Ulcers and Minor Burns: Real-World Evidence from Primary Care.

Medical devices (Auckland, N.Z.)·2026

Algorithm for Accurate CT Kidney Localization and Marking by Dual-polar Coordinates Multi-image Fusion.

Current medical imaging·2026

A self-assembly-state-resolving decomposition of SDS infrared spectra in the absence and presence of NaCl.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2026

Severe Splenic Rupture After Minor Blunt Trauma in a Patient With an Epidermoid Splenic Cyst: A Case Report.

Cureus·2026

Sophoridine induces parthanatos in mouse renal tubular epithelial cells via mitochondrial dysfunction and apoptosis-inducing factor (AIF) translocation.

Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association·2026

The microvascular footprint of lupus: nailfold capillaroscopy findings in Egyptian SLE patients and their link to disease activity, autoantibodies, and digital ischemia.

Clinical rheumatology·2026

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Chromosome breakage in control and fragile X subjects using folate-deficient culture conditions

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Obestatin and adropin in Prader-Willi syndrome and nonsyndromic obesity: Associations with weight, BMI-z, and HOMA-IR.

Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults.

Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.

Examination of Global Methylation and Targeted Imprinted Genes in Prader-Willi Syndrome.

EVALUATION OF PLASMA SUBSTANCE P AND BETA-ENDORPHIN LEVELS IN CHILDREN WITH PRADER-WILLI SYNDROME.

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.

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Chromosome breakage in control and fragile X subjects using folate-deficient culture conditions

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