Digitale Bibliotheek
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                             10 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype Kekis, Mariana
2016
59 11 p. 569-572
4 p.
artikel
2 A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus Mutlu, Mehmet Burak
2016
59 11 p. 604-606
3 p.
artikel
3 A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia Diomedi, Marina
2016
59 11 p. 564-568
5 p.
artikel
4 Before and after – Nutritional transformation of dysmorphism in a case of Costello syndrome Chiu, Annie T.G.
2016
59 11 p. 573-576
4 p.
artikel
5 Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype Piccini, Barbara
2016
59 11 p. 590-595
6 p.
artikel
6 Cognitive behavioral therapy in 22q11.2 microdeletion with psychotic symptoms: What do we learn from schizophrenia? Demily, Caroline
2016
59 11 p. 596-603
8 p.
artikel
7 Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis Shimojima, Keiko
2016
59 11 p. 559-563
5 p.
artikel
8 Haplotype analysis of α-thalassemia chromosomes reveals heterogeneity and multiple founders in Ashkenazi Jews Shaulov, Adir
2016
59 11 p. 555-558
4 p.
artikel
9 Non lethal Raine syndrome and differential diagnosis Elalaoui, Siham Chafai
2016
59 11 p. 577-583
7 p.
artikel
10 Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects Hassan, Maaz
2016
59 11 p. 584-589
6 p.
artikel
                             10 gevonden resultaten
 
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