about
Clinical interpretation of CNVs with cross-species phenotype dataOto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityWalking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations inABCC9TNF-α differentially modulates ion channels of nociceptive neurons
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description
hulumtuese
@sq
researcher
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wetenschapper
@nl
հետազոտող
@hy
name
Johanna Christina Czeschik
@ast
Johanna Christina Czeschik
@en
Johanna Christina Czeschik
@es
Johanna Christina Czeschik
@nl
Johanna Christina Czeschik
@sl
type
label
Johanna Christina Czeschik
@ast
Johanna Christina Czeschik
@en
Johanna Christina Czeschik
@es
Johanna Christina Czeschik
@nl
Johanna Christina Czeschik
@sl
prefLabel
Johanna Christina Czeschik
@ast
Johanna Christina Czeschik
@en
Johanna Christina Czeschik
@es
Johanna Christina Czeschik
@nl
Johanna Christina Czeschik
@sl
P106
P21
P31
P496
0000-0002-9254-0084