[Autosomal recessive pseudohypertonic muscular dystrophy with mental retardation. Report on 2 siblings]

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

[Low-molecular transfer factor and its use in the treatment of amyotrophic lateral sclerosis].

Ceskoslovenska neurologie a neurochirurgie·1991

[Somatosensory evoked potentials in workers exposed to toluene].

Ceskoslovenska neurologie a neurochirurgie·1991

[Cerebellar malacias in younger patients].

Ceskoslovenska neurologie a neurochirurgie·1991

[Anterior choroidal artery syndromes].

Ceskoslovenska neurologie a neurochirurgie·1991

[Tumor compression of the conus and cauda].

Ceskoslovenska neurologie a neurochirurgie·1991

[Computer tomography in the diagnosis of neuromuscular diseases in children].

Ceskoslovenska neurologie a neurochirurgie·1991

Long-read sequencing resolves complex CYP21A2 variants and identifies 2+0 carriers in 21-hydroxylase deficiency.

The Journal of molecular diagnostics : JMD·2026

Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.

Human molecular genetics·2026

Assessing the Effects of Childhood and Adult Body Mass Index on Diabetic Retinopathy Risk: A Mendelian Randomization Study.

Endocrine, metabolic & immune disorders drug targets·2026

Whole-brain chemosensory responses of both C. elegans sexes.

Current biology : CB·2026

Clinical and functional characterization of 27 Chinese patients with 46, XY disorders of sex development caused by novel NR5A1 variants.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation·2026

Infantile Epileptic Spasms Syndrome Complicating Mosaic Down-Turner Syndrome: A Case Report.

Clinical case reports·2026

Related Experiment Videos

[Autosomal recessive pseudohypertonic muscular dystrophy with mental retardation. Report on 2 siblings]

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].

[Low-molecular transfer factor and its use in the treatment of amyotrophic lateral sclerosis].

[Somatosensory evoked potentials in workers exposed to toluene].

[Cerebellar malacias in younger patients].

[Anterior choroidal artery syndromes].

[Tumor compression of the conus and cauda].

[Computer tomography in the diagnosis of neuromuscular diseases in children].

Long-read sequencing resolves complex CYP21A2 variants and identifies 2+0 carriers in 21-hydroxylase deficiency.

Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.

Assessing the Effects of Childhood and Adult Body Mass Index on Diabetic Retinopathy Risk: A Mendelian Randomization Study.

Whole-brain chemosensory responses of both C. elegans sexes.

Clinical and functional characterization of 27 Chinese patients with 46, XY disorders of sex development caused by novel NR5A1 variants.

Infantile Epileptic Spasms Syndrome Complicating Mosaic Down-Turner Syndrome: A Case Report.

Related Experiment Videos

[Autosomal recessive pseudohypertonic muscular dystrophy with mental retardation. Report on 2 siblings]

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