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405 results on '"Kjaergaard S"'

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1. The use of venous blood gas in assessing arterial acid-base and oxygenation status - an analysis of aggregated data from multiple studies evaluating the venous to arterial conversion (v-TAC) method.

3. ESICM LIVES 2016: part two: Milan, Italy. 1–5 October 2016

4. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

7. Insight into Stagnating Life Expectancy: Analysing Cause of Death Patterns across Socio-economic Groups

8. A new subtype of Brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN

9. Prepubertal growth in congenital disorder of glycosylation type la (CDG-la). (Original Article)

10. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

11. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

31. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG

39. Intracerebral hemorrhage in ICU: is it worth treating?

40. Exploring mucosal function as a clinical endpoint in ulcerative colitis

41. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

43. Contingent first-trimester screening for aneuploidies with cell-free DNA in a Danish clinical setting.

45. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

46. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

47. Increased nuchal translucency thickness and risk of neurodevelopmental disorders

48. Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening

49. ESICM LIVES 2016: part two

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