about
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formationA locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13Mutations in GRIP1 cause Fraser syndromeMutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)Diversity of neuromuscular pathology in lethal multiple pterygium syndrome.Reversed twin-to-twin transfusion syndrome following successful laser therapy.MURCS association with encephalocele: report of a second case.Apoptosis in the brains of infants suffering intrauterine cerebral injury.Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.Best practice no 178. Examination of the human placenta.MCT8 expression in human fetal cerebral cortex is reduced in severe intrauterine growth restriction.Pathological assessment of intrauterine growth restriction.Cerebellar cortical degeneration in association with small-cell carcinoma of the oesophagus.The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy.Decidual T Cells Exhibit a Highly Differentiated Phenotype and Demonstrate Potential Fetal Specificity and a Strong Transcriptional Response to IFN.Diaphragmatic pathology: a cause of clinically unexplained death in the perinatal/paediatric age group.Re: Stillbirth collection by Man et al.A difficult conversation? The views and experiences of parents and professionals on the consent process for perinatal postmortem after stillbirth.Reproducibility and accuracy of MR imaging of the brain after severe birth asphyxia.Expression of amyloid precursor protein (beta-APP) in the neonatal brain following hypoxic ischaemic injury.Derivation of rate of arterio-arterial anastomotic transfusion between monochorionic twin fetuses by Doppler waveform analysis.Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.Mosaic trisomy 1q: The longest surviving caseITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathyITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated CardiomyopathyPrimary malignant melanoma of the rectumPrenatal findings in generalized amyoplasiaHigh failure rate of postmortem karyotyping after termination for fetal abnormalityVACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC geneSpontaneous intestinal perforation and Candida peritonitis presenting as extensive necrotizing enterocolitisIdentification of arterio-venous anastomoses in vivo in monochorionic twin pregnancies: preliminary reportPlacental angioarchitecture in monochorionic twin pregnancies: relationship to fetal growth, fetofetal transfusion syndrome, and pregnancy outcomeAbdominal circumference in fetuses with congenital diaphragmatic hernia: correlation with hernia content and pregnancy outcomeAsymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotypeApparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case reportDoppler detection of arterio-arterial anastomoses in monochorionic twins: feasibility and clinical applicationAntimony and sudden infant death syndromeColour Doppler energy insonation of placental vasculature in monochorionic twins: absent arterio-arterial anastomoses in association with twin-to-twin transfusion syndromePartial or near total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's rolePeripheral skin necrosis in the recipient of monochorionic twins complicated by twin-twin transfusion syndrome
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P50
description
onderzoeker
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researcher
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հետազոտող
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name
Phillip Cox
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Phillip Cox
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Phillip Cox
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Phillip Cox
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Phillip Cox
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Phillip Cox
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Phillip Cox
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Phillip Cox
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prefLabel
Phillip Cox
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Phillip Cox
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Phillip Cox
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Phillip Cox
@nl
P106
P31
P496
0000-0002-4636-5668