[The genetics of diabetes mellitus]

Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome.

Clinical genetics·1993

A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype?

Genetic counseling (Geneva, Switzerland)·1992

Madelung deformity as a pathognomonic feature of the onycho-osteodysplasia syndrome.

Genetic counseling (Geneva, Switzerland)·1992

Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome.

Annales de genetique·1992

A 22-year old female with the 9p deletion syndrome.

Endocrinologie·1990

Leprechaunism: report of two cases and review.

Endocrinologie·1988

Changes in the iodine content of vegetables following the Chernobyl accident.

Endocrinologie·1991

Epidemiological surveillance of iodine deficiency in Romania by urinary iodine determinations in children aged 6-16 years from 30 counties.

Endocrinologie·1991

Cardiac disturbances in thyrotoxicosis: diagnosis, incidence, clinical features and management.

Endocrinologie·1991

Melatonin involvement in oxidative processes.

Endocrinologie·1991

Influence of sex and glucocorticoid hormones on 3H cholesterol uptake in the aortic wall and 3H adrenaline in the brain.

Endocrinologie·1991

Cardiothyreosis.

Endocrinologie·1991

Using High-Dimensional Environmental Covariates to Study Genotype by Environment Interaction for Reproductive Traits in Duroc Boars.

Journal of animal science·2026

Toward comprehensive cellular characterization of H&E slides.

Journal of pathology informatics·2026

A Genome-Wide Association Study of Premenstrual Symptoms in Two Nordic Populations.

Biological psychiatry global open science·2026

Predicting gene compensation in disease with graph embedding techniques.

Artificial intelligence in medicine·2026

In silico analysis of missense variants in functional domains of PWWP2A and PWWP2B proteins.

Mutation research·2026

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy.

Epilepsia·2026

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[The genetics of diabetes mellitus]

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Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome.

A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype?

Madelung deformity as a pathognomonic feature of the onycho-osteodysplasia syndrome.

Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome.

A 22-year old female with the 9p deletion syndrome.

Leprechaunism: report of two cases and review.

Changes in the iodine content of vegetables following the Chernobyl accident.

Epidemiological surveillance of iodine deficiency in Romania by urinary iodine determinations in children aged 6-16 years from 30 counties.

Cardiac disturbances in thyrotoxicosis: diagnosis, incidence, clinical features and management.

Melatonin involvement in oxidative processes.

Influence of sex and glucocorticoid hormones on 3H cholesterol uptake in the aortic wall and 3H adrenaline in the brain.

Cardiothyreosis.

Using High-Dimensional Environmental Covariates to Study Genotype by Environment Interaction for Reproductive Traits in Duroc Boars.

Toward comprehensive cellular characterization of H&E slides.

A Genome-Wide Association Study of Premenstrual Symptoms in Two Nordic Populations.

Predicting gene compensation in disease with graph embedding techniques.

In silico analysis of missense variants in functional domains of PWWP2A and PWWP2B proteins.

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy.

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[The genetics of diabetes mellitus]

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