First Robert J. Gorlin Conference on Human Dysmorphology. Minneapolis, October 14th-15th 1991

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

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Dysmorphology services: a snapshot of current practices and a vision for the future.

Clinical genetics·2015

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Clinical genetics·2014

A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.

European journal of neurology·2013

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Clinical genetics·2012

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Journal of medical genetics·2009

Monochorionic dizygotic twins with discordant genetic findings and congenital malformations.

Clinical dysmorphology·2026

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

Clinical dysmorphology·2026

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

Clinical dysmorphology·2026

Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.

Clinical dysmorphology·2026

Envisioning family, but where? Parenthood-related geographic preferences among childless LGB and heterosexual adults in Ecuador.

Frontiers in sociology·2026

Within and beyond the world: Ludwig Binswanger's phenomenology of love.

History of psychology·2026

Methodology of the French National Study "Context of Sexualities in France" (CSF-2023).

Perspectives on sexual and reproductive health·2026

Congenital Absence of the Left Common Iliac Artery: A Case Report.

The Kurume medical journal·2026

Beauty Against Entropy: The Pursuit of Dignity in the Face of Mortality.

The Journal of craniofacial surgery·2026

All in the family: Kidney donation in aging Japan.

Medical anthropology quarterly·2026

Related Experiment Videos

First Robert J. Gorlin Conference on Human Dysmorphology. Minneapolis, October 14th-15th 1991

Related Concept Videos

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Dysmorphology services: a snapshot of current practices and a vision for the future.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Monochorionic dizygotic twins with discordant genetic findings and congenital malformations.

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.

Envisioning family, but where? Parenthood-related geographic preferences among childless LGB and heterosexual adults in Ecuador.

Within and beyond the world: Ludwig Binswanger's phenomenology of love.

Methodology of the French National Study "Context of Sexualities in France" (CSF-2023).

Congenital Absence of the Left Common Iliac Artery: A Case Report.

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First Robert J. Gorlin Conference on Human Dysmorphology. Minneapolis, October 14th-15th 1991

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