[Mental deficiency of genetic origin]

[Clinical guide to the management of patients with Beckwith-Wiedemann syndrome].

Anales de pediatria (Barcelona, Spain : 2003)·2006

Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.

European journal of pediatrics·1994

[Cortical evoked auditory evoked potentials in a series of patients who had bacterial meningitis during childhood].

Anales espanoles de pediatria·1987

[Langerhans' cell histiocytosis: various manifestations with the same histopathologic base].

Anales espanoles de pediatria·2002

[External ventricular assist devices as circulatory support in patients with dilated cardiomyopathy].

Anales espanoles de pediatria·2002

[Comparison of the epidemiological characteristics of neural tube defects classified according to failure of the different points of closure].

Anales espanoles de pediatria·2002

[Cutaneous colonization by Malassezia spp. in neonates].

Anales espanoles de pediatria·2002

[Balloon valvoplasty for critical aortic valve stenosis in neonates].

Anales espanoles de pediatria·2002

[Childhood headache. A diagnostic approach].

Anales espanoles de pediatria·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

[Mental deficiency of genetic origin]

Related Concept Videos

[Clinical guide to the management of patients with Beckwith-Wiedemann syndrome].

Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.

[Cortical evoked auditory evoked potentials in a series of patients who had bacterial meningitis during childhood].

[Langerhans' cell histiocytosis: various manifestations with the same histopathologic base].

[External ventricular assist devices as circulatory support in patients with dilated cardiomyopathy].

[Comparison of the epidemiological characteristics of neural tube defects classified according to failure of the different points of closure].

[Cutaneous colonization by Malassezia spp. in neonates].

[Balloon valvoplasty for critical aortic valve stenosis in neonates].

[Childhood headache. A diagnostic approach].

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

[Mental deficiency of genetic origin]

Related Concept Videos

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