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                             14 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature Gudmundsson, Sanna
2019
62 6 p.
artikel
2 Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome Kanthi, Anil
2019
62 6 p.
artikel
3 Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome Pei, Yang
2019
62 6 p.
artikel
4 Editorial Board 2019
62 6 p.
artikel
5 Familial Mediterranean fever (FMF) phenotype in patients homozygous to the MEFV M694V mutation Grossman, Chagai
2019
62 6 p.
artikel
6 Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder Sakaguchi, Asami
2019
62 6 p.
artikel
7 Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum Akgün Doğan, Özlem
2019
62 6 p.
artikel
8 Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant Angelini, Chloé
2019
62 6 p.
artikel
9 Molecular genetic analysis reveals atypical confined placental mosaicism with a small supernumerary marker chromosome derived from chromosome 18: A clinical report of discordant results from three prenatal tests Sato, Taisuke
2019
62 6 p.
artikel
10 Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly Pillai, Nishitha R.
2019
62 6 p.
artikel
11 Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature Delanne, J.
2019
62 6 p.
artikel
12 Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome Arsov, Todor
2019
62 6 p.
artikel
13 TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations Niceta, Marcello
2019
62 6 p.
artikel
14 TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndrome Janin, Alexandre
2019
62 6 p.
artikel
                             14 gevonden resultaten
 
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