[Congenital anomalies in a family with incest]

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

Genetic divergence between reservoir and pre-therapy plasma HIV-1 Env variants does not confer consistent compartment-specific differences in broadly neutralizing antibody sensitivity.

Journal of virology·2026

Diabetes related genetics and outcomes after total pancreatectomy with islet autotransplantation.

The Journal of clinical endocrinology and metabolism·2026

Genetic variant profile in a cohort of inherited bone marrow failure patients from North india.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion·2026

Appreciating diversity: a review of the Iranian genomic landscape.

European journal of human genetics : EJHG·2026

The role of ferroptosis in juvenile idiopathic arthritis: Causal inference and mediation by immune phenotypes.

Medicine·2026

Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene.

Stem cell research·2026

Related Experiment Videos

[Congenital anomalies in a family with incest]

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].

Genetic divergence between reservoir and pre-therapy plasma HIV-1 Env variants does not confer consistent compartment-specific differences in broadly neutralizing antibody sensitivity.

Diabetes related genetics and outcomes after total pancreatectomy with islet autotransplantation.

Genetic variant profile in a cohort of inherited bone marrow failure patients from North india.

Appreciating diversity: a review of the Iranian genomic landscape.

The role of ferroptosis in juvenile idiopathic arthritis: Causal inference and mediation by immune phenotypes.

Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene.

Related Experiment Videos

[Congenital anomalies in a family with incest]

Related Concept Videos

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