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                             14 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax De la Torre-García, Oliver
2019
62 3 p. 195-197
artikel
2 Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease Albanyan, Saleh
2019
62 3 p. 177-181
artikel
3 Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum Burgemeister, Anna L.
2019
62 3 p. 210-216
artikel
4 CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations Accogli, Andrea
2019
62 3 p. 198-203
artikel
5 Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy Chaussade, Amélie
2019
62 3 p. 217-223
artikel
6 Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder Greenbaum, Lior
2019
62 3 p. 167-171
artikel
7 Editorial Board 2019
62 3 p. ii
artikel
8 Further delineation of the phenotype caused by loss of function mutations in PRMT7 Valenzuela, Irene
2019
62 3 p. 182-185
artikel
9 LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters Imbert-Bouteille, Marion
2019
62 3 p. 161-166
artikel
10 Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia Wang, Zhangyang
2019
62 3 p. 190-194
artikel
11 NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families Al Shehhi, Maryam
2019
62 3 p. 204-209
artikel
12 Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14 Miura, Shiroh
2019
62 3 p. 172-176
artikel
13 Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency França, Monica M.
2019
62 3 p. 186-189
artikel
14 Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy Kawai, Miki
2019
62 3 p. 224-228
artikel
                             14 gevonden resultaten
 
 Koninklijke Bibliotheek - Nationale Bibliotheek van Nederland
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