Rett syndrome: genetic clues based on mitochondrial changes in muscle

A new method for quantification and assessment of epileptiform activity in EEG with special reference to focal nocturnal epileptiform activity.

Brain topography·2008

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.

Neurology·2008

Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).

Neurology·2007

A 3-year follow-up of headache diagnoses and symptoms in Swedish schoolchildren.

Cephalalgia : an international journal of headache·2006

Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs.

Clinical and experimental rheumatology·2005

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.

Clinical genetics·2005

Defects of blastogenesis.

American journal of medical genetics·2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002

Three cases of tetrasomy 9p.

American journal of medical genetics·2002

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.

Regenerative therapy·2026

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Italian journal of pediatrics·2026

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Diabetes·2026

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

Frontiers in genetics·2026

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Journal of biomedical science·2026

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

BMC medical genomics·2026

Related Experiment Videos

Rett syndrome: genetic clues based on mitochondrial changes in muscle

Related Concept Videos

A new method for quantification and assessment of epileptiform activity in EEG with special reference to focal nocturnal epileptiform activity.

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.

Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).

A 3-year follow-up of headache diagnoses and symptoms in Swedish schoolchildren.

Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs.

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.

Defects of blastogenesis.

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

Limb anomalies: Developmental and evolutionary aspects.

Molecular etiology of gut malformations and diseases.

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

Three cases of tetrasomy 9p.

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

Related Experiment Videos

Rett syndrome: genetic clues based on mitochondrial changes in muscle

Related Concept Videos

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