Leiden University Scholarly Publications

Your Search

Enabled Filters

  • (-) = Sheridan, E.

Refine Results

Resource Type

Availability

Creation Date

Faculty

Collection

Author

Show more

Language

Search results

  • RSS Feed
(1 - 4 of 4)
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
Bodo, S.; Colas, C.; Buhard, O.; Collura, A.; Tinat, J.; Lavoine, N.; ... ; European Consortium Care CMMRD 2015
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
Article / Letter to editor
open access
Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome
Kelmemi, W.; Teeuw, M.E.; Bochdanovits, Z.; Ouburg, S.; Jonker, M.A.; Alkuraya, F.; ... ; Cornel, M.C. 2015
Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome
Article / Letter to editor
metadata only
Clinical and pathological features associated with mutations in MICU1
Childs, A.M.; Pysden, K.; Roper, H.; Chow, G.; Niks, E.H.; Kriek, M.; ... ; Muntoni, F. 2014
Clinical and pathological features associated with mutations in MICU1
Article / Letter to editor
metadata only
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Logan, C.V.; Szabadkai, G.; Sharpe, J.A.; Parry, D.A.; Torelli, S.; Childs, A.M.; ... ; UK10K Consortium 2014
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Article / Letter to editor
metadata only