[Familial incidence of pericentric inversion of X chromosome]

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

Molecular syndromology·2012

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.

Neurology·2008

Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.

Cytogenetic and genome research·2007

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Clinical genetics·2007

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Journal of medical genetics·2007

[Mutations in tumor suppressor gene NBS1 in adult patients with malignancies].

Casopis lekaru ceskych·2006

[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

Lamin B1 Coordinates the Assembly of the Nuclear Lamina.

Journal of cell science·2026

Machine-Readable Database for Genotype-Phenotype Analyses in Rare Diseases Using FKTN-related Congenital Muscular Dystrophies as a Prototype.

Research square·2026

NEMP1 organizes the meiotic telomere LINC interface to control chromosome movement and telomere integrity.

bioRxiv : the preprint server for biology·2026

TOPBP1-Dependent DNA Damage Processing Promotes Centromere Loss in an Inviable Xenopus Hybrid.

bioRxiv : the preprint server for biology·2026

TDP-43 dysfunction induces cryptic circular RNAs in ALS/FTD.

bioRxiv : the preprint server for biology·2026

Dynamics of bleomycin-induced lung injury at single-nucleus resolution.

bioRxiv : the preprint server for biology·2026

Related Experiment Videos

[Familial incidence of pericentric inversion of X chromosome]

Related Concept Videos

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.

Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

[Mutations in tumor suppressor gene NBS1 in adult patients with malignancies].

[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].

Lamin B1 Coordinates the Assembly of the Nuclear Lamina.

Machine-Readable Database for Genotype-Phenotype Analyses in Rare Diseases Using FKTN-related Congenital Muscular Dystrophies as a Prototype.

NEMP1 organizes the meiotic telomere LINC interface to control chromosome movement and telomere integrity.

TOPBP1-Dependent DNA Damage Processing Promotes Centromere Loss in an Inviable Xenopus Hybrid.

TDP-43 dysfunction induces cryptic circular RNAs in ALS/FTD.

Dynamics of bleomycin-induced lung injury at single-nucleus resolution.

Related Experiment Videos

[Familial incidence of pericentric inversion of X chromosome]

Related Concept Videos

Related Articles