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Showing results (21-30 of 28) with videos related to

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Journal of Pediatric Hematology/Oncology|June 26, 2018
Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 PhosphorylationJoão F Neves, Catarina Martins, Ana I Cordeiro, et al.
Acta Reumatologica Portuguesa|September 9, 2016
Recommendations for Vaccination in Adult Patients with Systemic Inflammatory Rheumatic Diseases from the Portuguese Society of RheumatologyI Cordeiro, A C Duarte, J F Ferreira, et al.
Clinical Genetics|February 14, 2009
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in PortugalM R Almeida, A B Campos-Xavier, A Medeira, et al.
Molecular Genetics and Metabolism|June 28, 2005
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7M L Cardoso, A Balreira, E Martins, et al.
Human Genetics|May 26, 1998
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactylyF R Vargas, E Roessler, K Gaudenz, et al.
European Journal of Pediatrics|February 1, 2000
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literatureC F Boerkoel, S O'Neill, J L André, et al.
Inflammatory Bowel Diseases|September 21, 2017
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic DiarrheaBritt-Sabina Petersen, Dietrich August, Renate Abt, et al.
Clinical Genetics|January 17, 2013
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype studyP Makrythanasis, B W van Bon, M Steehouwer, et al.
Pageof 3

Showing results (21-30 of 28) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 28 results.
Journal of Pediatric Hematology/Oncology|June 26, 2018
Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 PhosphorylationJoão F Neves, Catarina Martins, Ana I Cordeiro, et al.
Acta Reumatologica Portuguesa|September 9, 2016
Recommendations for Vaccination in Adult Patients with Systemic Inflammatory Rheumatic Diseases from the Portuguese Society of RheumatologyI Cordeiro, A C Duarte, J F Ferreira, et al.
Clinical Genetics|February 14, 2009
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in PortugalM R Almeida, A B Campos-Xavier, A Medeira, et al.
Molecular Genetics and Metabolism|June 28, 2005
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7M L Cardoso, A Balreira, E Martins, et al.
Human Genetics|May 26, 1998
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactylyF R Vargas, E Roessler, K Gaudenz, et al.
European Journal of Pediatrics|February 1, 2000
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literatureC F Boerkoel, S O'Neill, J L André, et al.
Inflammatory Bowel Diseases|September 21, 2017
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic DiarrheaBritt-Sabina Petersen, Dietrich August, Renate Abt, et al.
Clinical Genetics|January 17, 2013
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype studyP Makrythanasis, B W van Bon, M Steehouwer, et al.
Pageof 3