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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 9, 2012
X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation
Marc D'Hooghe, Dominik Selleslag, Geert Mortier, et al.
Calcified Tissue International
|
October 25, 2013
Camurati-Engelmann disease (progressive diaphyseal dysplasia): reports of an Indian kindred
Sanjay Kumar Bhadada, Subbiah Sridhar, Ellen Steenackers, et al.
European Journal of Medical Genetics
|
September 24, 2005
Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type
Björn Menten, Karen Buysse, Jo Vandesompele, et al.
European Journal of Human Genetics : EJHG
|
December 18, 2003
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders
Annick Vogels, Jenneke Van Den Ende, Kathelijne Keymolen, et al.
American Journal of Medical Genetics. Part A
|
December 18, 2003
Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints
Stefan Vermeulen, Björn Menten, Nadine Van Roy, et al.
American Journal of Medical Genetics. Part A
|
June 29, 2019
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO
Dhanya L Narayanan, Anju Shukla, Neethukrishna Kausthubham, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
February 6, 2022
Differentiation of Induced Pluripotent Stem Cells Into Chondrocytes: Methods and Applications for Disease Modeling and Drug Discovery
Pauline De Kinderen, Josephina Meester, Bart Loeys, et al.
Calcified Tissue International
|
September 20, 2023
Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687
Yentl Huybrechts, Raphaël De Ridder, Ellen Steenackers, et al.
Calcified Tissue International
|
February 7, 2019
Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget's Disease of Bone and Modifies the Age of Onset
Raphaël De Ridder, Eveline Boudin, Geert Vandeweyer, et al.
Human Molecular Genetics
|
August 22, 2002
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa
Bart Loeys, Lionel Van Maldergem, Geert Mortier, et al.
Page
of 16
Search research articles
Search
Showing results (31-40 of 156) with videos related to
Sort By:
Page
of 16
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 9, 2012
X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation
Marc D'Hooghe, Dominik Selleslag, Geert Mortier, et al.
Calcified Tissue International
|
October 25, 2013
Camurati-Engelmann disease (progressive diaphyseal dysplasia): reports of an Indian kindred
Sanjay Kumar Bhadada, Subbiah Sridhar, Ellen Steenackers, et al.
European Journal of Medical Genetics
|
September 24, 2005
Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type
Björn Menten, Karen Buysse, Jo Vandesompele, et al.
European Journal of Human Genetics : EJHG
|
December 18, 2003
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders
Annick Vogels, Jenneke Van Den Ende, Kathelijne Keymolen, et al.
American Journal of Medical Genetics. Part A
|
December 18, 2003
Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints
Stefan Vermeulen, Björn Menten, Nadine Van Roy, et al.
American Journal of Medical Genetics. Part A
|
June 29, 2019
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO
Dhanya L Narayanan, Anju Shukla, Neethukrishna Kausthubham, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
February 6, 2022
Differentiation of Induced Pluripotent Stem Cells Into Chondrocytes: Methods and Applications for Disease Modeling and Drug Discovery
Pauline De Kinderen, Josephina Meester, Bart Loeys, et al.
Calcified Tissue International
|
September 20, 2023
Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687
Yentl Huybrechts, Raphaël De Ridder, Ellen Steenackers, et al.
Calcified Tissue International
|
February 7, 2019
Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget's Disease of Bone and Modifies the Age of Onset
Raphaël De Ridder, Eveline Boudin, Geert Vandeweyer, et al.
Human Molecular Genetics
|
August 22, 2002
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa
Bart Loeys, Lionel Van Maldergem, Geert Mortier, et al.
Page
of 16