Ferdy Cayami

20162019
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Research Output 2016 2019

2019

Clinical evaluation and mutation analysis in Indonesian autosomal dominant polycystic kidney disease

Partiningrum, D. L., Harumsari, S., Cayami, F. K., Lestariningsih, L., Pals, G. & Faradz, S. M. H., 2019, In : Pakistan Journal of Medical and Health Sciences. 13, 3, p. 908-913

Research output: Contribution to journalArticleAcademicpeer-review

The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1

Cayami, FK., Maugeri, A., Treurniet, S., Setijowati, E. D., Teunissen, B., Eekhoff, EMW., Pals, G., Faradz, S. M. & Micha, D., 1 Jan 2019, In : Molecular Genetics and Genomic Medicine. 7, 8, e823.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

4H Leukodystrophy: Lessons from 3T Imaging

Cayami, F. K., Bugiani, M., Pouwels, P. J. W., Bernard, G., van der Knaap, M. S. & Wolf, N. I., Apr 2018, In : Neuropediatrics. 49, 2, p. 112-117

Research output: Contribution to journalArticleAcademicpeer-review

2017

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

Vrij-Van Den Bos, S., Hol, J. A., La Piana, R., Harting, I., Vanderver, A., Barkhof, F., Cayami, F., Van Wieringen, W. N., Pouwels, P. J. W., Van Der Knaap, M. S., Bernard, G. & Wolf, N. I., 1 Jun 2017, In : Neuropediatrics. 48, 3, p. 152-160 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., Conant, A., Bent, S. J., Gripp, K. W., Hahn, A., Humphray, S., Kimura-Ohba, S., Kingsbury, Z., Lajoie, B. R., Lal, D., Micha, D., Pizzino, A., Sinke, R. J., Sival, D., Stolte-Dijkstra, I. & 9 othersSuperti-Furga, A., Ulrick, N., Taft, R. J., Ogata, T., Ozono, K., Matsumoto, N., Neubauer, B. A., Simons, C. & Vanderver, A., 1 Dec 2017, In : Neurogenetics. 18, 4, p. 185-194 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

2016

Diffuse hypomyelination is not obligate for POLR3-related disorders

La Piana, R., Cayami, F. K., Tran, L. T., Guerrero, K., van Spaendonk, R., Ounap, K., Pajusalu, S., Haack, T., Wassmer, E., Timmann, D., Mierzewska, H., Poll-The, B. T., Patel, C., Cox, H., Atik, T., Onay, H., Ozkinay, F., Vanderver, A., van der Knaap, M. S., Wolf, N. I. & 1 othersBernard, G., 26 Apr 2016, In : Neurology. 86, 17, p. 1622-1626

Research output: Contribution to journalArticleAcademicpeer-review