De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction
Copyright policy ) Zampatti, S.; Castori, M.; Fischer, B.; Ferrari, P.; Garavelli, L.; Dionisi-Vici, C.; Agolini, E.; +7 Authors
Zampatti, S.; Castori, M.; Fischer, B.; Ferrari, P.; Garavelli, L.; Dionisi-Vici, C.; Agolini, E.; Wischmeijer, A.; Morava, E.; Morava, E.; Novelli, G.; Haberle, J.; Kornak, U.; Brancati, F.;
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction
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01 april 2012
Netherlands, Italy, Germany, Italy, Netherlands, Switzerland
Male, 2716 Genetics (clinical), IGMD 4: Glycostation disorders, 610 Medicine & health, Cutis Laxa, delta-1-Pyrroline-5-Carboxylate Reductase, Corneal Opacity, 1311 Genetics, 10036 Medical Clinic, Child, Preschool, Intellectual Disability, Humans, Female, Pyrroline Carboxylate Reductases, Child
Male, 2716 Genetics (clinical), IGMD 4: Glycostation disorders, 610 Medicine & health, Cutis Laxa, delta-1-Pyrroline-5-Carboxylate Reductase, Corneal Opacity, 1311 Genetics, 10036 Medical Clinic, Child, Preschool, Intellectual Disability, Humans, Female, Pyrroline Carboxylate Reductases, Child
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selected citations
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These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
Citations provided by BIP!popularityPopularity provided by BIP!
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
Popularity provided by BIP! 43
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