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                             9 results found
no title author magazine year volume issue page(s) type
1 Associated nonurinary congenital anomalies among infants with congenital anomalies of kidney and urinary tract (CAKUT) Stoll, Claude
 2014
 57 7 p. 322-328
7 p.
 article
2 Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia Walters-Sen, Lauren C.
 2014
 57 7 p. 315-318
4 p.
 article
3 Authors' response to the Letter to the Editor “Left ventricular noncompaction associated with a compound heterozygous MYBPC3 mutation” Schaefer, Elise
 2014
 57 7 p. 350-351
2 p.
 article
4 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis Prada, Carlos E.
 2014
 57 7 p. 339-344
6 p.
 article
5 Genetics of congenital hypogonadotropic hypogonadism in Denmark Tommiska, Johanna
 2014
 57 7 p. 345-348
4 p.
 article
6 Genotype–phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion Fanizza, Isabella
 2014
 57 7 p. 334-338
5 p.
 article
7 Left ventricular noncompaction associated with a compound heterozygous MYBPC3 mutation Finsterer, Josef
 2014
 57 7 p. 349-
1 p.
 article
8 Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature Xu, Huihui
 2014
 57 7 p. 329-333
5 p.
 article
9 Progressive cognitive decline in an adult patient with cleidocranial dysplasia Takenouchi, Toshiki
 2014
 57 7 p. 319-321
3 p.
 article
                             9 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands