Digitale Bibliotheek
Sluiten Bladeren door artikelen uit een tijdschrift
     Tijdschrift beschrijving
       Alle jaargangen van het bijbehorende tijdschrift
         Alle afleveringen van het bijbehorende jaargang
                                       Alle artikelen van de bijbehorende aflevering
 
                             13 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing Colombi, Marina
2018
61 1 p. 17-20
artikel
2 Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance Nagara, Majdi
2018
61 1 p. 1-7
artikel
3 Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations Vaqueiro, Ana Carolina
2018
61 1 p. 29-33
artikel
4 Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation Nijak, Aleksandra
2018
61 1 p. 8-10
artikel
5 Letter regarding the article: “A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy” Berciano, José
2018
61 1 p. 43-44
artikel
6 Letter regarding the article “Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals (Bijlsma et al., 2009)” and the diagnosis of coexisting Mowat-Wilson syndrome in a patient with 16p11.2 deletion Amor, David J.
2018
61 1 p. 48-49
artikel
7 Massively parallel sequencing on human cleavage-stage embryos to detect chromosomal abnormality Zhou, Zhi
2018
61 1 p. 34-42
artikel
8 Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective Estévez, Raúl
2018
61 1 p. 50-60
artikel
9 Multiple SLC26A2 mutations occurring in a three-generational family Barreda-Bonis, Ana Coral
2018
61 1 p. 24-28
artikel
10 New ocular finding in Baraitser-Winter syndrome (BWS) Rall, Natalie
2018
61 1 p. 21-23
artikel
11 Response to “In silico prediction is insufficient to assess pathogenicity of mtDNA variants” Bacalhau, Mafalda
2018
61 1 p. 46-47
artikel
12 Response to the letter to the editor by Berciano J & García A Miura, Shiroh
2018
61 1 p. 45
artikel
13 Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation Lapinski, Philip E.
2018
61 1 p. 11-16
artikel
                             13 gevonden resultaten
 
 Koninklijke Bibliotheek - Nationale Bibliotheek van Nederland