Cryptophthalmos-syndactyly syndrome without cryptophthalmos

Who gets dipyrone (metamizole) in Germany? Prescribing by age, sex and region.

Journal of clinical pharmacy and therapeutics·2015

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

Clinical genetics·2011

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

Clinical genetics·2007

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

European journal of human genetics : EJHG·2007

Location and type of mutation in the LIS1 gene do not predict phenotypic severity.

Neurology·2007

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

Journal of medical genetics·2006

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.

Clinical genetics·2026

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Clinical genetics·2026

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Clinical genetics·2026

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Clinical genetics·2026

Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.

Clinical genetics·2026

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Clinical genetics·2026

Hereditary Hyperferritinemia Cataract Syndrome Mimicking Iron Overload in a Pediatric Patient With Coexisting HFE H63D Homozygosity.

Case reports in pediatrics·2026

Peeling Back the Layers.

Journal of the American Academy of Child and Adolescent Psychiatry·2026

Late-onset autoimmune diabetes in 2 octogenarians: diagnostic misclassification and therapeutic heterogeneity.

JCEM case reports·2026

Global Prevalence of Obsessive-Compulsive and Related Disorders: A Systematic Review and Modeling Study.

The American journal of psychiatry·2026

Neuromyelitis optica spectrum disorder: a 5-year experience in a tertiary hospital in Northern Vietnam.

Multiple sclerosis and related disorders·2026

Extraconal Orbital Cavernous Venous Malformations: An Incidental Finding.

Annals of African medicine·2026

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Cryptophthalmos-syndactyly syndrome without cryptophthalmos

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Who gets dipyrone (metamizole) in Germany? Prescribing by age, sex and region.

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

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

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

Location and type of mutation in the LIS1 gene do not predict phenotypic severity.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Hereditary Hyperferritinemia Cataract Syndrome Mimicking Iron Overload in a Pediatric Patient With Coexisting HFE H63D Homozygosity.

Peeling Back the Layers.

Late-onset autoimmune diabetes in 2 octogenarians: diagnostic misclassification and therapeutic heterogeneity.

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Cryptophthalmos-syndactyly syndrome without cryptophthalmos

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