Results
|
|
21.
|
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion. [electronic resource] by
- Antoun, Ghadi
- McBride, Skye
- Vanstone, Jason R
- Naas, Turaya
- Michaud, Jean
- Redpath, Stephanie
- McMillan, Hugh J
- Brophy, Jason
- Daoud, Hussein
- Chakraborty, Pranesh
- Dyment, David
- Holcik, Martin
- Harper, Mary-Ellen
- Lines, Matthew A
Producer: 20160512
In:
JIMD reports vol. 27
Availability: No items available.
|
|
|
22.
|
|
|
|
23.
|
In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History. [electronic resource] by
- Colin, E
- Barth, M
- Boussion, F
- Latour, P
- Piguet-Lacroix, G
- Guichet, A
- Ziegler, A
- Triau, S
- Loisel, D
- Sentilhes, L
- Bonneau, D
Publication details: JIMD reports 2016
In:
JIMD reports vol. 28
Availability: No items available.
|
|
|
24.
|
|
|
|
25.
|
|
|
|
26.
|
|
|
|
27.
|
Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). [electronic resource] by
- Farruggia, Piero
- Di Cataldo, Andrea
- Pinto, Rita M
- Palmisani, Elena
- Macaluso, Alessandra
- Valvo, Laura Lo
- Cantarini, Maria E
- Tornesello, Assunta
- Corti, Paola
- Fioredda, Francesca
- Varotto, Stefania
- Martire, Baldo
- Moroni, Isabella
- Puccio, Giuseppe
- Russo, Giovanna
- Dufour, Carlo
- Pillon, Marta
Producer: 20160512
In:
JIMD reports vol. 26
Availability: No items available.
|
|
|
28.
|
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum. [electronic resource] by
- Banne, Ehud
- Meiner, Vardiella
- Shaag, Avraham
- Katz-Brull, Rachel
- Gamliel, Ayelet
- Korman, Stanley
- Cederboim, Smadar Horowitz
- Duvdevani, Morasha Plesser
- Frumkin, Ayala
- Zilkha, Amir
- Kapuller, Vadim
- Arbell, Dan
- Cohen, Elite
- Eventov-Friedman, Smadar
Producer: 20160512
In:
JIMD reports vol. 26
Availability: No items available.
|
|
|
29.
|
|
|
|
30.
|
|
|
|
31.
|
|
|
|
32.
|
|
|
|
33.
|
|
|
|
34.
|
|
|
|
35.
|
|
|
|
36.
|
|
|
|
37.
|
|
|
|
38.
|
|
|
|
39.
|
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up. [electronic resource] by
- van der Tol, L
- Cassiman, David
- Houge, Gunnar
- Janssen, Mirian C
- Lachmann, Robin H
- Linthorst, Gabor E
- Ramaswami, Uma
- Sommer, Claudia
- Tøndel, Camilla
- West, Michael L
- Weidemann, Frank
- Wijburg, Frits A
- Svarstad, Einar
- Hollak, Carla Em
- Biegstraaten, Marieke
Producer: 20141124
In:
JIMD reports vol. 17
Availability: No items available.
|
|
|
40.
|
|