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Balog, J.; Goossens, R.; Lemmers, R.J.L.F.; Straasheijm, K.R.; Vliet, P.J. van der; Heuvel, A. van den; ... ; Maarel, S.M. van der
2018
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
Article / Letter to editor
open access
Reijnders, M.R.F.; Miller, K.A.; Alvi, M.; Goos, J.A.C.; Lees, M.M.; Burca, A. de; ... ; Deciphering Dev Disorders Study
2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
Article / Letter to editor
open access
Blok, L.S.; Hiatt, S.M.; Bowling, K.M.; Prokop, J.W.; Engel, K.L.; Cochran, J.N.; ... ; DDD Study
2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Article / Letter to editor
open access
Olson, H.E.; Jean-Marcais, N.; Yang, E.; Heron, D.; Tatton-Brown, K.; Zwaag, P.A. van der; ... ; C4RCD Res Grp
2018
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
Article / Letter to editor
open access
Peeters-Scholte, C.M.P.C.D.; Scheltema, P.N.A. van; Klumper, F.J.C.M.; Everwijn, S.M.P.; Koopmans, M.; Hoffer, M.J.V.; ... ; Santen, G.W.E.
2017
Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance
Article / Letter to editor
metadata only
Sollis, E.; Deriziotis, P.; Saitsu, H.; Miyake, N.; Matsumoto, N.; Hoffer, M.J.V.; ... ; Fisher, S.E.
2017
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders
Article / Letter to editor
metadata only
Kury, S.; Woerden, G.M. van; Besnard, T.; Onori, M.P.; Latypova, X.; Towne, M.C.; ... ; Deciphering Dev Dis Study
2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Article / Letter to editor
open access
Dogrusoz, M.; Bagger, M.; Duinen, S.G. van; Kroes, W.G.; Ruivenkamp, C.A.L.; Bohringer, S.; ... ; Jager, M.J.
2017
The Prognostic Value of AJCC Staging in Uveal Melanoma Is Enhanced by Adding Chromosome 3 and 8q Status
Article / Letter to editor
metadata only
Rij, M.C. van; Grijsen, M.L.; Appelman-Dijkstra, N.M.; Hansson, K.B.M.; Ruivenkamp, C.A.L.; Mulder, K.; ... ; Kant, S.G.
2017
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome
Article / Letter to editor
open access
Fountain, M.D.; Aten, E.; Cho, M.T.; Juusola, J.; Walkiewicz, M.A.; Ray, J.W.; ... ; Schaaf, C.P.
2017
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
Article / Letter to editor
open access
Irfanullah; Khan, S.; Ullah, I.; Nasir, A.; Meijer, C.A.; Laurense-Bik, M.; ... ; Ahmad, W.
2016
Hypomorphic MKS1 Mutation in a Pakistani Family with Mild Joubert Syndrome and Atypical Features: Expanding the Phenotypic Spectrum of MKS1-Related Ciliopathies
Article / Letter to editor
metadata only
Wit, J.M.; Oostdijk, W.; Losekoot, M.; Duyvenvoorde, H.A. van; Ruivenkamp, C.A.L.; Kant, S.G.
2016
MECHANISMS IN ENDOCRINOLOGY Novel genetic causes of short stature
Article / Letter to editor
metadata only
Tan, R.N.G.B.; Witlox, R.S.G.M.; Hilhorst-Hofstee, Y.; Peeters-Scholte, C.M.P.C.D.; Hollander, N.S. den; Ruivenkamp, C.A.L.; ... ; Santen, G.W.E.
2015
Clinical and Molecular Characterization of an Infant with a Tandem Duplication and Deletion of 19p13
Article / Letter to editor
metadata only
Lemmers, R.J.L.F.; Boogaard, M.L. van den; Vliet, P.J. van der; Donlin-Smith, C.M.; Nations, S.P.; Ruivenkamp, C.A.L.; ... ; Maarel, S.M. van der
2015
Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome
Article / Letter to editor
metadata only
Sun, Y.; Ruivenkamp, C.A.L.; Hoffer, M.J.V.; Vrijenhoek, T.; Kriek, M.; Asperen, C.J. van; ... ; Santen, G.W.E.
2015
Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?
Article / Letter to editor
metadata only
Putte, D.E.F. van de; Frankhuizen, W.S.; Vijfhuizen, L.; Groenewegen, L.; Tamminga, R.Y.J.; Bouman, K.; ... ; Boon, E.M.J.
2015
Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients
Article / Letter to editor
metadata only
Versluis, M.; Lange, M.J. de; Pelt, S.I. van; Ruivenkamp, C.A.L.; Kroes, W.G.M.; Cao, J.F.; ... ; Velden, P.A. van der
2015
Digital PCR Validates 8q Dosage as Prognostic Tool in Uveal Melanoma
Article / Letter to editor
metadata only
Kamp, H.J. van der; Kant, S.G.; Ruivenkamp, C.A.L.; Gijsbers, A.C.J.; Haring, D.; Oostdijk, W.
2014
Pseudoisodicentric Xp Chromosome [46, X, psu idic(X)(q21.1)] and Its Effect on Growth and Pubertal Development
Article / Letter to editor
metadata only
Essen, T.H. van; Pelt, S.I. van; Versluis, M.; Bronkhorst, I.H.G.; Duinen, S.G. van; Marinkovic, M.; ... ; Jager, M.J.
2014
Prognostic parameters in uveal melanoma and their association with BAP1 expression
Article / Letter to editor
metadata only
Wit, J.M.; Duyvenvoorde, H.A. van; Klinken, J.B. van; Caliebe, J.; Bosch, C.A.J.; Lui, J.C.; ... ; Ruivenkamp, C.A.L.
2014
Copy Number Variants in Short Children Born Small for Gestational Age
Article / Letter to editor
metadata only
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![Pseudoisodicentric Xp Chromosome [46, X, psu idic(X)(q21.1)] and Its Effect on Growth and Pubertal Development](/sites/all/modules/custom/islandora_solr_search/images/defaultimg.png?solr_nav%5Bid%5D=51af57a6c3219893051b&solr_nav%5Bpage%5D=2&solr_nav%5Boffset%5D=17)
