Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe
about
Unmasking the ciliopathies: craniofacial defects and the primary cilium.Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.Ciliopathies: Genetics in Pediatric Medicine.TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.Meckel Gruber syndrome associated with anencephaly—an unusual reported case.Cleft Palate and Aglossia Result From Perturbations in Wnt and Hedgehog Signaling.Mortality in Joubert syndrome.EUROCAT: an update on its functions and activities
P2860
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P2860
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Meckel-Gruber Syndrome: a popu ...... atures, and survival in Europe
@ast
Meckel-Gruber Syndrome: a popu ...... atures, and survival in Europe
@en
type
label
Meckel-Gruber Syndrome: a popu ...... atures, and survival in Europe
@ast
Meckel-Gruber Syndrome: a popu ...... atures, and survival in Europe
@en
prefLabel
Meckel-Gruber Syndrome: a popu ...... atures, and survival in Europe
@ast
Meckel-Gruber Syndrome: a popu ...... atures, and survival in Europe
@en
P2093
P2860
P50
P356
P1476
Meckel-Gruber Syndrome: a popu ...... atures, and survival in Europe
@en
P2093
Anke Rissmann
Annette Queisser-Luft
Diana Wellesley
Elisa Calzolari
Ester Garne
Helen Dolk
Ingeborg Barisic
Jorieke Eh Bergman
Judith Rankin
Ljubica Boban
P2860
P2888
P304
P356
10.1038/EJHG.2014.174
P50
P577
2014-09-03T00:00:00Z