Skip to main content
Leiden University
Scholarly Publications
Home
Submit
About
Select Collection
All collections
Academic speeches
Dissertations
Faculty of Archaeology
Faculty of Governance and Global Affairs
Faculty of Humanities
Faculty of Science
Faculty of Social and Behavioural Sciences
Leiden Journals, Conference Proceedings and Books
Leiden Law School
Leiden University Press
Medicine / Leiden University Medical Centre (LUMC)
Research output UL
Search box
Your Search
Enabled Filters
(-)
= Alkuraya, F.S.
Sort Options
Date (year)
Author / Creator
Title
Refine Results
Resource Type
Article / Letter to editor
(14)
+
-
Availability
Open access
(10)
+
-
Metadata Only
(4)
+
-
Creation Date
2022
(4)
+
-
2019
(2)
+
-
2023
(2)
+
-
Faculty
Leiden University Medical Center (LUMC)
(12)
+
-
Collection
Medicine / Leiden University Medical Centre (LUMC)
(12)
+
-
Scholarly Publications
(2)
+
-
Topic
Malan syndrome
(2)
+
-
Marshall-Smith syndrome
(2)
+
-
Author
Alkuraya, F.S.
(14)
+
-
Bijlsma, E.K.
(5)
+
-
Maroofian, R.
(5)
+
-
Torti, E.
(5)
+
-
Beetz, C.
(4)
+
-
Haack, T.B.
(4)
+
-
Houlden, H.
(4)
+
-
Karimiani, E.G.
(4)
+
-
Campeau, P.M.
(3)
+
-
Efthymiou, S.
(3)
+
-
Haeringen, A. van
(3)
+
-
Ockeloen, C.W.
(3)
+
-
Palmer, E.E.
(3)
+
-
Pfundt, R.
(3)
+
-
Salpietro, V.
(3)
+
-
Striano, P.
(3)
+
-
Suri, M.
(3)
+
-
Acero, I.H.
(2)
+
-
Aguennouz, M.
(2)
+
-
Akman, C.
(2)
+
-
Al-Mutairi, F.
(2)
+
-
Arias, P.
(2)
+
-
Armstrong, R.
(2)
+
-
Arpin, S.
(2)
+
-
Atawneh, O.
(2)
+
-
Avdjieva, D.
(2)
+
-
Bain, J.M.
(2)
+
-
Banka, S.
(2)
+
-
Banu, S.
(2)
+
-
Baralle, D.
(2)
+
-
Beneteau, C.
(2)
+
-
Bernardini, L.
(2)
+
-
Bettencourt, C.
(2)
+
-
Beysen, D.
(2)
+
-
Bird, L.M.
(2)
+
-
Blazo, M.
(2)
+
-
Boesch, S.
(2)
+
-
Boles, R.
(2)
+
-
Borgione, E.
(2)
+
-
Boyle, J.
(2)
+
-
Brandt, T.
(2)
+
-
Breza, M.
(2)
+
-
Carracedo, A.
(2)
+
-
Carter, M.
(2)
+
-
Ceulemans, B.
(2)
+
-
Chedrawi, A.
(2)
+
-
Chehadeh, S. el
(2)
+
-
Clement, E.
(2)
+
-
Clowes, V.
(2)
+
-
Cole, T.
(2)
+
-
Collins, F.
(2)
+
-
Cortese, A.
(2)
+
-
Costain, G.
(2)
+
-
Coubes, C.
(2)
+
-
Dapia, I.
(2)
+
-
Dardiotis, E.
(2)
+
-
Dauvilliers, Y.A.
(2)
+
-
Davies, S.
(2)
+
-
Digilio, M.C.
(2)
+
-
Dikow, N.
(2)
+
-
Donato, N. di
(2)
+
-
Douzgou, S.
(2)
+
-
Dudding-Byth, T.
(2)
+
-
Dupuis, L.
(2)
+
-
Elcioglu, N.H.
(2)
+
-
Estivill, X.
(2)
+
-
Fahrner, J.A.
(2)
+
-
Ferrari, M.D.
(2)
+
-
Field, M.
(2)
+
-
Fleming, E.
(2)
+
-
Fortuna, A.M.
(2)
+
-
Fortuna, S.
(2)
+
-
Forwood, C.
(2)
+
-
Foster, A.
(2)
+
-
Friedman, J.
(2)
+
-
Gerard, B.
(2)
+
-
Gibbons, J.
(2)
+
-
Golla, S.
(2)
+
-
Gonzalez, N.G.
(2)
+
-
Goraya, J.S.
(2)
+
-
Grimmel, M.
(2)
+
-
Hagen, J.M. van
(2)
+
-
Hashem, M.
(2)
+
-
Hashem, M.O.
(2)
+
-
Heimer, G.
(2)
+
-
Hennekam, R.C.
(2)
+
-
Hoff, A.
(2)
+
-
Huber, I.
(2)
+
-
Hunt, D.
(2)
+
-
Iascone, M.
(2)
+
-
Ibrahim, S.
(2)
+
-
Janssens, K.
(2)
+
-
Joss, S.
(2)
+
-
Kaiser, A.S.
(2)
+
-
Kalscheuer, V.M.
(2)
+
-
Kamath, A.
(2)
+
-
Karadurmus, D.
(2)
+
-
Kathom, H.
(2)
+
-
Kirmani, S.
(2)
+
-
Kooblall, K.
(2)
+
-
Koutsis, G.
(2)
+
-
Kriouile, Y.
(2)
+
-
Kroft, S.D.
(2)
+
-
Lapunzina, P.
(2)
+
-
Laranjeira, F.E.R.
(2)
+
-
Lederer, D.
(2)
+
-
Liebelt, J.
(2)
+
-
Lim, S.Y.
(2)
+
-
Lochmuller, H.
(2)
+
-
Lynch, S.A.
(2)
+
-
Maas, S.M.
(2)
+
-
Macintosh, R.
(2)
+
-
Maddirevula, S.
(2)
+
-
Mammi, C.
(2)
+
-
Maqbool, S.
(2)
+
-
Mathijssen, I.B.
(2)
+
-
Mathot, M.
(2)
+
-
McKee, S.
(2)
+
-
McKenna, C.
(2)
+
-
McTague, A.
(2)
+
-
Show more
Language
en
(14)
+
-
Search results
(1 - 14 of 14)
show grid
show list
save search
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Further delineation of Malan syndrome
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism
In search of triallelism in Bardet-Biedl syndrome