[Manifestations of genetic burden in prenatal and postnatal periods]

Global prevalence of CFTR variants with respect to their responsiveness to elexacaftor-tezacaftor-ivacaftor.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2025

Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants.

BMC oral health·2024

Entropy in scalp EEG can be used as a preimplantation marker for VNS efficacy.

Scientific reports·2023

Ectodermal dysplasia: important role of complex dental care in its interdisciplinary management.

European journal of paediatric dentistry·2022

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡.

Human reproduction open·2019

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

BMC medical genetics·2019

[Growth, development and prediction of body height in children with central precocious puberty after 3 years of therapy with Decapeptyl-Depot, a slow-releasing GnRH agonist].

Ceskoslovenska pediatrie·1994

[Dangers in external treatment of skin diseases in childhood].

Ceskoslovenska pediatrie·1994

[The effect of growth hormone therapy on thyroid parameters].

Ceskoslovenska pediatrie·1994

[Long-term therapy of central precocious puberty in girls with the gonadoliberin analog D-Trp-6-LHRH after prior therapy with cyproterone acetate].

Ceskoslovenska pediatrie·1994

[Improvement in the prognosis for growth in a boy with central precocious puberty and growth hormone deficiency treated concurrently with growth hormone and D-Trp-6-LHRH gonadoliberin analog].

Ceskoslovenska pediatrie·1994

[D-Trp-6 gonadotropin analog releasing hormone (Decapeptyl-Depot)-- the drug of choice in central idiopathic precocious puberty].

Ceskoslovenska pediatrie·1994

Synergistic Variants in C-terminal Binding Protein 1 and Alkaline Phosphatase Lead to Mandibular Hypoplasia Through Impaired Wnt Signaling: An Oligogenic Model.

bioRxiv : the preprint server for biology·2026

Point mutations and complex variants impact gene expression and addiction-related behaviors in Heterogeneous Stock rats.

bioRxiv : the preprint server for biology·2026

Developmental Cerebellar Pathology in Mouse Models of SCN2A Premature Termination Codon Variants.

bioRxiv : the preprint server for biology·2026

Single-nucleus transcriptome-wide association study of human brain disorders.

Nature·2026

A Genetic Risk Variant Associated With the Risk of Primary Biliary Cholangitis Is Inherited From Neanderthals.

Liver international : official journal of the International Association for the Study of the Liver·2026

Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases.

Molecular genetics & genomic medicine·2026

Related Experiment Videos

[Manifestations of genetic burden in prenatal and postnatal periods]

Related Concept Videos

Global prevalence of CFTR variants with respect to their responsiveness to elexacaftor-tezacaftor-ivacaftor.

Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants.

Entropy in scalp EEG can be used as a preimplantation marker for VNS efficacy.

Ectodermal dysplasia: important role of complex dental care in its interdisciplinary management.

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡.

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

[Growth, development and prediction of body height in children with central precocious puberty after 3 years of therapy with Decapeptyl-Depot, a slow-releasing GnRH agonist].

[Dangers in external treatment of skin diseases in childhood].

[The effect of growth hormone therapy on thyroid parameters].

[Long-term therapy of central precocious puberty in girls with the gonadoliberin analog D-Trp-6-LHRH after prior therapy with cyproterone acetate].

[Improvement in the prognosis for growth in a boy with central precocious puberty and growth hormone deficiency treated concurrently with growth hormone and D-Trp-6-LHRH gonadoliberin analog].

[D-Trp-6 gonadotropin analog releasing hormone (Decapeptyl-Depot)-- the drug of choice in central idiopathic precocious puberty].

Synergistic Variants in C-terminal Binding Protein 1 and Alkaline Phosphatase Lead to Mandibular Hypoplasia Through Impaired Wnt Signaling: An Oligogenic Model.

Point mutations and complex variants impact gene expression and addiction-related behaviors in Heterogeneous Stock rats.

Developmental Cerebellar Pathology in Mouse Models of SCN2A Premature Termination Codon Variants.

Single-nucleus transcriptome-wide association study of human brain disorders.

A Genetic Risk Variant Associated With the Risk of Primary Biliary Cholangitis Is Inherited From Neanderthals.

Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases.

Related Experiment Videos

[Manifestations of genetic burden in prenatal and postnatal periods]

Related Concept Videos

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