Unusual pedigree patterns in families with spinal muscular atrophy

Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2017

Sixteenth-century German woodcut of a male infant with possible disorganization.

Clinical genetics·2015

Differential vasodilation of human placental and myometrial arteries related to myofilament Ca(2+)-desensitization and the expression of Hsp20 but not MYPT1.

Molecular human reproduction·2013

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

Molecular psychiatry·2013

Factors associated with antenatal care utilization among rural women in Lao People's Democratic Republic.

Maternal and child health journal·2010

Incidence and mortality rates of myasthenia gravis and myasthenic crisis in US hospitals.

Neurology·2009

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

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Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Clinical genetics·2026

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Clinical genetics·2026

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Clinical genetics·2026

AA amyloidosis in familial Mediterranean fever: a comparative study of clinical and genetic features between Algerian probands and their relatives.

Rheumatology international·2026

Sitosterolemia in pregnancy: A rare lipid disorder and its obstetric management.

Obstetric medicine·2026

Bone and Cartilage Staining for Skeletal Preparations.

Methods in molecular biology (Clifton, N.J.)·2026

Bidirectional Mendelian randomization between oral microbiota and allergic rhinitis in East Asian populations.

Journal of oral microbiology·2026

Correlation analysis between eight anthropometric indicators and arterial stiffness in relatively healthy Chinese adults.

Frontiers in nutrition·2026

Heritability - A Paradox of Quantitative Genetics.

Genetics·2026

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Unusual pedigree patterns in families with spinal muscular atrophy

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Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.

Sixteenth-century German woodcut of a male infant with possible disorganization.

Differential vasodilation of human placental and myometrial arteries related to myofilament Ca(2+)-desensitization and the expression of Hsp20 but not MYPT1.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

Factors associated with antenatal care utilization among rural women in Lao People's Democratic Republic.

Incidence and mortality rates of myasthenia gravis and myasthenic crisis in US hospitals.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

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AA amyloidosis in familial Mediterranean fever: a comparative study of clinical and genetic features between Algerian probands and their relatives.

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Unusual pedigree patterns in families with spinal muscular atrophy

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