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American Journal of Medical Genetics
|
March 8, 2000
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia
A Verloes, S Lesenfants, M Barr, et al.
Clinical Genetics
|
April 10, 2013
Disfluency: it is not always stuttering
M Cosyns, Y van Zaalen, G Mortier, et al.
American Journal of Medical Genetics
|
March 10, 2001
Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy
B M Anderlid, S Sahlén, J Schoumans, et al.
Molecular Syndromology
|
May 10, 2012
Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?
T Nakane, T Tando, K Aoyagi, et al.
Genetic Testing
|
September 12, 2001
Carrier screening for cystic fibrosis in a prenatal setting
I Delvaux, A van Tongerloo, L Messiaen, et al.
Plos One
|
July 3, 2025
The blood-sucking tick Ixodes hexagonus reveals dietary stable isotope signatures of mammalian hosts
Gaia G Mortier, Stuart Black, Andrew C Kitchener, et al.
Human Mutation
|
June 22, 2000
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
L M Messiaen, T Callens, G Mortier, et al.
Journal of Medical Genetics
|
January 14, 2000
Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type
L Faivre, M Le Merrer, A Megarbane, et al.
Journal of Medical Genetics
|
December 18, 2008
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
A Willaert, F Malfait, S Symoens, et al.
Medical and Veterinary Entomology
|
August 27, 2025
Stable isotope analysis of ectoparasites as a tool for understanding trophic interactions with mammalian hosts
Gaia G Mortier, Stuart Black, Andrew C Kitchener, et al.
Page
of 10
Search research articles
Search
Showing results (71-80 of 95) with videos related to
Sort By:
Page
of 10
American Journal of Medical Genetics
|
March 8, 2000
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia
A Verloes, S Lesenfants, M Barr, et al.
Clinical Genetics
|
April 10, 2013
Disfluency: it is not always stuttering
M Cosyns, Y van Zaalen, G Mortier, et al.
American Journal of Medical Genetics
|
March 10, 2001
Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy
B M Anderlid, S Sahlén, J Schoumans, et al.
Molecular Syndromology
|
May 10, 2012
Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?
T Nakane, T Tando, K Aoyagi, et al.
Genetic Testing
|
September 12, 2001
Carrier screening for cystic fibrosis in a prenatal setting
I Delvaux, A van Tongerloo, L Messiaen, et al.
Plos One
|
July 3, 2025
The blood-sucking tick Ixodes hexagonus reveals dietary stable isotope signatures of mammalian hosts
Gaia G Mortier, Stuart Black, Andrew C Kitchener, et al.
Human Mutation
|
June 22, 2000
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
L M Messiaen, T Callens, G Mortier, et al.
Journal of Medical Genetics
|
January 14, 2000
Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type
L Faivre, M Le Merrer, A Megarbane, et al.
Journal of Medical Genetics
|
December 18, 2008
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
A Willaert, F Malfait, S Symoens, et al.
Medical and Veterinary Entomology
|
August 27, 2025
Stable isotope analysis of ectoparasites as a tool for understanding trophic interactions with mammalian hosts
Gaia G Mortier, Stuart Black, Andrew C Kitchener, et al.
Page
of 10