Deletion breakpoints in a 32 bp perfect repeat located 45.1 Kb apart in the human growth hormone gene cluster

Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr).

Journal of endocrinological investigation·2006

Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.

Journal of molecular medicine (Berlin, Germany)·2006

Final height in a patient with Laron syndrome after long-term therapy with rhlGF-I and short-term therapy with LHRH-analogue and oxandrolone during puberty.

Journal of endocrinological investigation·2005

Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.

The Journal of clinical endocrinology and metabolism·2004

Gonadal function and pubertal development after treatment of a childhood malignancy.

Journal of pediatric endocrinology & metabolism : JPEM·2003

Italian cross-sectional growth charts for height, weight and BMI (6-20 y).

European journal of clinical nutrition·2002

KATNAL2 dysfunction impairs microtubule dynamics and contributes to syndromic neurodevelopmental disease.

Human molecular genetics·2026

Immune-related DNA methylation signatures, age prediction, and cross-tissue assessment via biologically informed neural networks.

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Droplet digital PCR as a first-line detection tool in the genetic diagnosis of vascular anomalies.

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The monogenic forms of obesity in Saudi families.

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VPS13C regulates triglyceride homeostasis and adipocyte differentiation.

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Gene regulatory behaviors of mutant CRX proteins demonstrated with late-stage human retinal organoids.

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Loss-of-function variants in CFAP57, SEPTIN4, SPEM2, and CFAP46 cause asthenoteratozoospermia.

Human reproduction (Oxford, England)·2026

Chromosome-Scale Assembly of Novel Caenorhabditis sp. 65 (strain JU4118).

microPublication biology·2026

Comparative analysis of chromosome interaction networks in 12 human cell types using Hi-C.

Yi chuan = Hereditas·2026

Interobserver reliability and digital morphometric characterization of constitutional chromosomal heteromorphisms in clinical cytogenetics.

Human genetics·2026

Functional Validation of a CC2D2A Non-Canonical Splice-Site Variant Supports Prenatal Molecular Testing in Joubert Syndrome.

Diagnostics (Basel, Switzerland)·2026

Overcoming the nuclear barrier in nonviral gene therapy: mechanisms, carrier design, and translational perspectives on NLS peptide and DNA targeting sequence strategies.

Drug delivery·2026

Related Experiment Videos

Deletion breakpoints in a 32 bp perfect repeat located 45.1 Kb apart in the human growth hormone gene cluster

Related Concept Videos

Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr).

Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.

Final height in a patient with Laron syndrome after long-term therapy with rhlGF-I and short-term therapy with LHRH-analogue and oxandrolone during puberty.

Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.

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Italian cross-sectional growth charts for height, weight and BMI (6-20 y).

KATNAL2 dysfunction impairs microtubule dynamics and contributes to syndromic neurodevelopmental disease.

Immune-related DNA methylation signatures, age prediction, and cross-tissue assessment via biologically informed neural networks.

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Gene regulatory behaviors of mutant CRX proteins demonstrated with late-stage human retinal organoids.

Loss-of-function variants in CFAP57, SEPTIN4, SPEM2, and CFAP46 cause asthenoteratozoospermia.

Chromosome-Scale Assembly of Novel Caenorhabditis sp. 65 (strain JU4118).

Comparative analysis of chromosome interaction networks in 12 human cell types using Hi-C.

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Deletion breakpoints in a 32 bp perfect repeat located 45.1 Kb apart in the human growth hormone gene cluster

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