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G Matthijs

Showing results (51-60 of 157) with videos related to

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The Journal of General Physiology|December 1, 1988
Cytoplasmic free calcium, myosin light chain phosphorylation, and force in phasic and tonic smooth muscleB Himpens, G Matthijs, A V Somlyo, et al.
Italian Journal of Pediatrics|October 11, 2022
A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case reportE Lebredonchel, A Riquet, D Neut, et al.
JIMD Reports|June 21, 2018
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic VariantsD Quelhas, J Jaeken, A Fortuna, et al.
Journal of Medical Genetics|August 16, 2003
Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion eventJ R Vermeesch, R Thoelen, I Salden, et al.
The Biochemical Journal|March 23, 1999
Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymesM Pirard, Y Achouri, J F Collet, et al.
European Journal of Human Genetics : EJHG|January 15, 1999
Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I familiesC Bjursell, J Wahlström, K Berg, et al.
Genetic Counseling (Geneva, Switzerland)|January 23, 1999
Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20)K Devriendt, G Matthijs, J Meireleire, et al.
Journal of Medical Genetics|November 5, 2002
Mosaicism for duplication 12q (12q13-->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infantJ R Vermeesch, M Syrrou, I Salden, et al.
Neurology|May 16, 2002
Familial temporal lobe epilepsy with febrile seizuresC Depondt, W Van Paesschen, G Matthijs, et al.
Journal of Medical Genetics|November 10, 2000
Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1T J De Ravel, G Matthijs, M Holvoet, et al.
Pageof 16

Showing results (51-60 of 157) with videos related to

Sort By:
Pageof 16
The Journal of General Physiology|December 1, 1988
Cytoplasmic free calcium, myosin light chain phosphorylation, and force in phasic and tonic smooth muscleB Himpens, G Matthijs, A V Somlyo, et al.
Italian Journal of Pediatrics|October 11, 2022
A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case reportE Lebredonchel, A Riquet, D Neut, et al.
JIMD Reports|June 21, 2018
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic VariantsD Quelhas, J Jaeken, A Fortuna, et al.
Journal of Medical Genetics|August 16, 2003
Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion eventJ R Vermeesch, R Thoelen, I Salden, et al.
The Biochemical Journal|March 23, 1999
Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymesM Pirard, Y Achouri, J F Collet, et al.
European Journal of Human Genetics : EJHG|January 15, 1999
Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I familiesC Bjursell, J Wahlström, K Berg, et al.
Genetic Counseling (Geneva, Switzerland)|January 23, 1999
Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20)K Devriendt, G Matthijs, J Meireleire, et al.
Journal of Medical Genetics|November 5, 2002
Mosaicism for duplication 12q (12q13-->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infantJ R Vermeesch, M Syrrou, I Salden, et al.
Neurology|May 16, 2002
Familial temporal lobe epilepsy with febrile seizuresC Depondt, W Van Paesschen, G Matthijs, et al.
Journal of Medical Genetics|November 10, 2000
Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1T J De Ravel, G Matthijs, M Holvoet, et al.
Pageof 16