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G M Mancini

Showing results (21-30 of 32) with videos related to

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FEBS Letters|October 22, 1998
Characterization of a heavy metal ion transporter in the lysosomal membraneA C Havelaar, I L de Gast, S Snijders, et al.
The New England Journal of Medicine|November 8, 1984
First-trimester diagnosis of Krabbe's disease by direct enzyme analysis of chorionic villiW J Kleijer, G M Mancini, M G Jahoda, et al.
European Journal of Pediatrics|March 1, 1987
Free sialic acid storage disease. A new Italian caseA Fois, P Balestri, M A Farnetani, et al.
European Journal of Pediatrics|August 1, 1992
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detectionG M Mancini, P Hu, F W Verheijen, et al.
Journal of Medical Genetics|June 30, 2000
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variantsY V Voznyi, J L Keulemans, G M Mancini, et al.
Biochemical and Biophysical Research Communications|August 31, 1992
Nucleotide-activated chloride channels in lysosomal membranesB C Tilly, G M Mancini, J Bijman, et al.
Dermatology (Basel, Switzerland)|February 23, 1999
Juvenile hyaline fibromatosis: clinical heterogeneity in three patientsG M Mancini, L Stojanov, R Willemsen, et al.
Nature Genetics|December 2, 1999
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseasesF W Verheijen, E Verbeek, N Aula, et al.
Prenatal Diagnosis|September 19, 2017
Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasoundM C de Wit, F Boekhorst, G M Mancini, et al.
Clinical Genetics|March 7, 2014
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1J M van de Kamp, A Errami, M Howidi, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
FEBS Letters|October 22, 1998
Characterization of a heavy metal ion transporter in the lysosomal membraneA C Havelaar, I L de Gast, S Snijders, et al.
The New England Journal of Medicine|November 8, 1984
First-trimester diagnosis of Krabbe's disease by direct enzyme analysis of chorionic villiW J Kleijer, G M Mancini, M G Jahoda, et al.
European Journal of Pediatrics|March 1, 1987
Free sialic acid storage disease. A new Italian caseA Fois, P Balestri, M A Farnetani, et al.
European Journal of Pediatrics|August 1, 1992
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detectionG M Mancini, P Hu, F W Verheijen, et al.
Journal of Medical Genetics|June 30, 2000
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variantsY V Voznyi, J L Keulemans, G M Mancini, et al.
Biochemical and Biophysical Research Communications|August 31, 1992
Nucleotide-activated chloride channels in lysosomal membranesB C Tilly, G M Mancini, J Bijman, et al.
Dermatology (Basel, Switzerland)|February 23, 1999
Juvenile hyaline fibromatosis: clinical heterogeneity in three patientsG M Mancini, L Stojanov, R Willemsen, et al.
Nature Genetics|December 2, 1999
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseasesF W Verheijen, E Verbeek, N Aula, et al.
Prenatal Diagnosis|September 19, 2017
Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasoundM C de Wit, F Boekhorst, G M Mancini, et al.
Clinical Genetics|March 7, 2014
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1J M van de Kamp, A Errami, M Howidi, et al.
Pageof 4