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Ferdy K Cayami

Showing results (1-10 of 11) with videos related to

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Yonago Acta Medica|March 24, 2017
Optimization of PCR Condition: The First Study of High Resolution Melting Technique for Screening of <i>APOA1</i> VarianceHesty Wahyuningsih, Ferdy K Cayami, Udin Bahrudin, et al.
Neuropediatrics|November 28, 2017
4H Leukodystrophy: Lessons from 3T ImagingFerdy K Cayami, Marianna Bugiani, Petra J W Pouwels, et al.
Molecular Genetics & Genomic Medicine|June 18, 2019
The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1Ferdy K Cayami, Alessandra Maugeri, Sanne Treurniet, et al.
The Journal of Molecular Diagnostics : JMD|March 18, 2015
Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1Grace X Y Lim, Yu Ling Loo, Farmaditya E P Mundhofir, et al.
Neuropediatrics|May 27, 2015
POLR3A and POLR3B Mutations in Unclassified HypomyelinationFerdy K Cayami, Roberta La Piana, Rosalina M L van Spaendonk, et al.
Scientific Reports|August 29, 2022
Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysateFerdy K Cayami, Lauria Claeys, Ruben de Ruiter, et al.
Human Mutation|August 7, 2015
SMAD2 Mutations Are Associated with Arterial Aneurysms and DissectionsDimitra Micha, Dong-Chuan Guo, Yvonne Hilhorst-Hofstee, et al.
Neurology|April 1, 2016
Diffuse hypomyelination is not obligate for POLR3-related disordersRoberta La Piana, Ferdy K Cayami, Luan T Tran, et al.
Neurogenetics|August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Yonago Acta Medica|March 24, 2017
Optimization of PCR Condition: The First Study of High Resolution Melting Technique for Screening of <i>APOA1</i> VarianceHesty Wahyuningsih, Ferdy K Cayami, Udin Bahrudin, et al.
Neuropediatrics|November 28, 2017
4H Leukodystrophy: Lessons from 3T ImagingFerdy K Cayami, Marianna Bugiani, Petra J W Pouwels, et al.
Molecular Genetics & Genomic Medicine|June 18, 2019
The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1Ferdy K Cayami, Alessandra Maugeri, Sanne Treurniet, et al.
The Journal of Molecular Diagnostics : JMD|March 18, 2015
Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1Grace X Y Lim, Yu Ling Loo, Farmaditya E P Mundhofir, et al.
Neuropediatrics|May 27, 2015
POLR3A and POLR3B Mutations in Unclassified HypomyelinationFerdy K Cayami, Roberta La Piana, Rosalina M L van Spaendonk, et al.
Scientific Reports|August 29, 2022
Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysateFerdy K Cayami, Lauria Claeys, Ruben de Ruiter, et al.
Human Mutation|August 7, 2015
SMAD2 Mutations Are Associated with Arterial Aneurysms and DissectionsDimitra Micha, Dong-Chuan Guo, Yvonne Hilhorst-Hofstee, et al.
Neurology|April 1, 2016
Diffuse hypomyelination is not obligate for POLR3-related disordersRoberta La Piana, Ferdy K Cayami, Luan T Tran, et al.
Neurogenetics|August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
Pageof 2