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D R Bertola

Showing results (1-10 of 18) with videos related to

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American Journal of Medical Genetics|February 7, 1998
Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorderD R Bertola, L M Wolf, H V Toriello, et al.
Revista Do Hospital Das Clinicas|May 2, 2000
Noonan syndrome: a clinical and genetic study of 31 patientsD R Bertola, S M Sugayama, L M Albano, et al.
Genetics and Molecular Research : GMR|July 19, 2014
Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutationC R Quaio, Y K Koda, D R Bertola, et al.
Pediatric Dermatology|July 8, 2000
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasiasD R Bertola, C A Kim, S M Sugayama, et al.
Clinical and Experimental Dermatology|October 22, 2009
Angiokeratoma: a cutaneous marker of Fabry's diseaseL M J Albano, C Rivitti, D R Bertola, et al.
Arquivos Brasileiros De Cardiologia|November 18, 2000
Cardiac findings in 31 patients with Noonan's syndromeD R Bertola, C A Kim, S M Sugayama, et al.
Genetics and Molecular Research : GMR|February 25, 2016
Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblingsJ F Franco, D C Soares, L C Torres, et al.
Dermatology (Basel, Switzerland)|August 10, 2005
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL geneC A Kim, A Konig, D R Bertola, et al.
Molecular Syndromology|October 30, 2010
An Illustrative Case of Neurofibromatosis Type 1 and NF1 MicrodeletionL A Praxedes, F M Pereira, J F Mazzeu, et al.
Journal of Intellectual Disability Research : JIDR|October 29, 2021
Two novel pathogenic variants in MED13L: one familial and one isolated caseL M L Carvalho, S S da Costa, F Campagnari, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics|February 7, 1998
Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorderD R Bertola, L M Wolf, H V Toriello, et al.
Revista Do Hospital Das Clinicas|May 2, 2000
Noonan syndrome: a clinical and genetic study of 31 patientsD R Bertola, S M Sugayama, L M Albano, et al.
Genetics and Molecular Research : GMR|July 19, 2014
Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutationC R Quaio, Y K Koda, D R Bertola, et al.
Pediatric Dermatology|July 8, 2000
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasiasD R Bertola, C A Kim, S M Sugayama, et al.
Clinical and Experimental Dermatology|October 22, 2009
Angiokeratoma: a cutaneous marker of Fabry's diseaseL M J Albano, C Rivitti, D R Bertola, et al.
Arquivos Brasileiros De Cardiologia|November 18, 2000
Cardiac findings in 31 patients with Noonan's syndromeD R Bertola, C A Kim, S M Sugayama, et al.
Genetics and Molecular Research : GMR|February 25, 2016
Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblingsJ F Franco, D C Soares, L C Torres, et al.
Dermatology (Basel, Switzerland)|August 10, 2005
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL geneC A Kim, A Konig, D R Bertola, et al.
Molecular Syndromology|October 30, 2010
An Illustrative Case of Neurofibromatosis Type 1 and NF1 MicrodeletionL A Praxedes, F M Pereira, J F Mazzeu, et al.
Journal of Intellectual Disability Research : JIDR|October 29, 2021
Two novel pathogenic variants in MED13L: one familial and one isolated caseL M L Carvalho, S S da Costa, F Campagnari, et al.
Pageof 2