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                             17 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability Pacault, Mathilde

62 12 p.
artikel
2 Blurring boundaries. Interviews with PGT couples about comprehensive chromosome screening Hens, Kristien

62 12 p.
artikel
3 Bone dysplasias in 1.6 million births in Argentina Duarte, Santiago Pablo

62 12 p.
artikel
4 CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia Shetty, Aakash

62 12 p.
artikel
5 Char Syndrome a novel mutation and new insights: A clinical report Massaad, E.

62 12 p.
artikel
6 Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience Ciaccio, Claudia

62 12 p.
artikel
7 Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes Rai, Archana

62 12 p.
artikel
8 Editorial Board
62 12 p.
artikel
9 Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility Sezer, Abdullah

62 12 p.
artikel
10 LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss Al-Amri, Ahmed H.

62 12 p.
artikel
11 Molecular analysis of 19 Spanish patients with mixed porphyrias Borrero Corte, María José

62 12 p.
artikel
12 Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V Retrouvey, Jean-Marc

62 12 p.
artikel
13 Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes Bhoj, Elizabeth J.

62 12 p.
artikel
14 Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders Mastrangelo, Mario

62 12 p.
artikel
15 PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome Abdin, D.

62 12 p.
artikel
16 Rare missense TUBGCP5 gene variant in a patient with primary microcephaly Maver, Aleš

62 12 p.
artikel
17 TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy Miura, Shiroh

62 12 p.
artikel
                             17 gevonden resultaten
 
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