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                             13 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies” Cung, Winnie
2015
58 11 p. 584-590
7 p.
artikel
2 Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers–Danlos syndrome Makrygiannis, Georgios
2015
58 11 p. 634-636
3 p.
artikel
3 Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype Rittinger, Olaf
2015
58 11 p. 603-607
5 p.
artikel
4 Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts Raymond, Laure
2015
58 11 p. 591-596
6 p.
artikel
5 Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases Li, Xiyuan
2015
58 11 p. 617-623
7 p.
artikel
6 Exome sequencing in a patient with Catel–Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate Stanghellini, Ilaria
2015
58 11 p. 597-602
6 p.
artikel
7 Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2 Fjaer, Roar
2015
58 11 p. 624-628
5 p.
artikel
8 Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia Daoud, Hussein
2015
58 11 p. 573-577
5 p.
artikel
9 Microdeletion 8q22.2-q22.3 in a 40-year-old male Sinajon, Pierre
2015
58 11 p. 569-572
4 p.
artikel
10 Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions Kamien, Benjamin
2015
58 11 p. 629-633
5 p.
artikel
11 7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature Caselli, Rossella
2015
58 11 p. 578-583
6 p.
artikel
12 15q11.2 microdeletion and hypoplastic left heart syndrome Barone, Chiara
2015
58 11 p. 608-610
3 p.
artikel
13 Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy Lopes, L.R.
2015
58 11 p. 611-616
6 p.
artikel
                             13 gevonden resultaten
 
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