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G Matthijs

Showing results (111-120 of 157) with videos related to

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American Journal of Medical Genetics|May 9, 2001
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counselingV Drouin-Garraud, M Belgrand, S Grünewald, et al.
American Journal of Human Genetics|June 19, 1998
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentationJ Jaeken, G Matthijs, J M Saudubray, et al.
Blood|June 22, 2001
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutationK Freson, K Devriendt, G Matthijs, et al.
Neuropediatrics|April 12, 2003
Neurological presentation in pediatric patients with congenital disorders of glycosylation type IaE Miossec-Chauvet, Y Mikaeloff, D Heron, et al.
JIMD Reports|February 23, 2013
ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel PatientsM Dercksen, A C Crutchley, E M Honey, et al.
Journal of Medical Genetics|December 24, 1998
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysisS W Knight, T J Vulliamy, N S Heiss, et al.
JIMD Reports|February 23, 2013
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutationsB Pérez, P Briones, D Quelhas, et al.
JIMD Reports|February 23, 2013
Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different PhenotypeS Huybrechts, C De Laet, P Bontems, et al.
European Journal of Medical Genetics|September 24, 2005
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patientsG Van Buggenhout, C Van Ravenswaaij-Arts, N Mc Maas, et al.
American Journal of Medical Genetics. Part A|June 10, 2003
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutationsPhilippe Debeer, H Peeters, S Driess, et al.
Pageof 16

Showing results (111-120 of 157) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics|May 9, 2001
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counselingV Drouin-Garraud, M Belgrand, S Grünewald, et al.
American Journal of Human Genetics|June 19, 1998
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentationJ Jaeken, G Matthijs, J M Saudubray, et al.
Blood|June 22, 2001
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutationK Freson, K Devriendt, G Matthijs, et al.
Neuropediatrics|April 12, 2003
Neurological presentation in pediatric patients with congenital disorders of glycosylation type IaE Miossec-Chauvet, Y Mikaeloff, D Heron, et al.
JIMD Reports|February 23, 2013
ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel PatientsM Dercksen, A C Crutchley, E M Honey, et al.
Journal of Medical Genetics|December 24, 1998
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysisS W Knight, T J Vulliamy, N S Heiss, et al.
JIMD Reports|February 23, 2013
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutationsB Pérez, P Briones, D Quelhas, et al.
JIMD Reports|February 23, 2013
Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different PhenotypeS Huybrechts, C De Laet, P Bontems, et al.
European Journal of Medical Genetics|September 24, 2005
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patientsG Van Buggenhout, C Van Ravenswaaij-Arts, N Mc Maas, et al.
American Journal of Medical Genetics. Part A|June 10, 2003
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutationsPhilippe Debeer, H Peeters, S Driess, et al.
Pageof 16