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Showing 1 to 12 of 39 entries
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Promoting Gender Equality in STEM-oriented Universities: Institutional Policy Measures in Sweden, Finland and Norway

STEM and underrepresentation

Drange I.
GSID: NJCl5dwc9UIJ
C Silander, I Drange, M Pietilä… - Gender Inequalities in …, 2022 - books.google.com

Equal access to research-intensive careers for talented academics of all genders and backgrounds is vital to secure social justice and to ensure efficient research and knowledge production. Still, gender inequalities endure in academia. Although Sweden, Norway and Finland have...

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.

Molecular syndromology

Keaton AA, Solomon BD, Kauvar EF, El-Jaick KB, Gropman AL, Zafer Y, Meck JM, Bale SJ, Grange DK, Haddad BR, Gowans GC, Clegg NJ, Delgado MR, Hahn JS, Pineda-Alvarez DE, Lacbawan F, Vélez JI, Roessler E, Muenke M.
PMID: 22125506
Mol Syndromol. 2010;1(5):211-222. doi: 10.1159/000328203. Epub 2011 May 18.

Holoprosencephaly (HPE), which results from failed or incomplete midline forebrain division early in gestation, is the most common forebrain malformation. The etiology of HPE is complex and multifactorial. To date, at least 12 HPE-associated genes have been identified, including...

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-lessons learned.

Journal of community genetics

Livingston J, Therrell BL, Mann MY, Anderson CS, Christensen K, Gorski JL, Grange DK, Peck D, Roberston M, Rogers S, Taylor M, Kaye CI.
PMID: 22109872
J Community Genet. 2011 Dec;2(4):191-200. doi: 10.1007/s12687-011-0055-z. Epub 2011 Jul 06.

To determine how US newborn dried bloodspot screening (NDBS) programs obtain patient-level data on clinical genetic counseling services offered to families of newborns identified through newborn NDBS and the extent to which newborns and their families receive these services....

Electronic properties of hole- and electron-doped T'-, T*-, and infinite-layer-type high-Tc cuprates.

Physical review. B, Condensed matter

Fink C, Johnson RL, Klauda M, Lunz P, Markl J, Range K, Rau F, Saemann-Ischenko G, Seemann R.
PMID: 10007985
Phys Rev B Condens Matter. 1993 Jul 01;48(2):1217-1232. doi: 10.1103/physrevb.48.1217.

No abstract available.

Using meteorological normalisation to detect interventions in air quality time series.

The Science of the total environment

Grange SK, Carslaw DC.
PMID: 30759588
Sci Total Environ. 2019 Feb 25;653:578-588. doi: 10.1016/j.scitotenv.2018.10.344. Epub 2018 Oct 28.

Interventions used to improve air quality are often difficult to detect in air quality time series due to the complex nature of the atmosphere. Meteorological normalisation is a technique which controls for meteorology/weather over time in an air quality...

Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria.

JIMD reports

Hood A, Rutlin J, Shimony JS, Grange DK, White DA.
PMID: 27450369
JIMD Rep. 2017;33:41-47. doi: 10.1007/8904_2016_579. Epub 2016 Jul 22.

We tested the hypothesis that brain white matter integrity mediates the relationship between phenylalanine (Phe) control and executive abilities in children with phenylketonuria (PKU; N = 36). To do so, we examined mean diffusivity (MD) from diffusion tensor imaging...

Skillful prediction of northern climate provided by the ocean.

Nature communications

Årthun M, Eldevik T, Viste E, Drange H, Furevik T, Johnson HL, Keenlyside NS.
PMID: 29271422
Nat Commun. 2017 Dec 22;8:16152. doi: 10.1038/ncomms16152.

This corrects the article DOI: 10.1038/ncomms15875.

Epilepsy and other seizure disorders in acute psychiatric inpatients.

BMC psychiatry

Nakken EI, Grinde F, Vaaler A, Drange OK, Brodtkorb E, Sæther SG.
PMID: 34911471
BMC Psychiatry. 2021 Dec 15;21(1):626. doi: 10.1186/s12888-021-03619-y.

BACKGROUND: It is well known that patients with epilepsy have a high rate of psychiatric comorbidity. However, studies exploring epilepsy in psychiatric cohorts are scarce. The aim of this study was to examine the prevalence of seizure disorders in...

Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.

JIMD reports

Wongkittichote P, Watson JR, Leonard JM, Toolan ER, Dickson PI, Grange DK.
PMID: 33204595
JIMD Rep. 2020 Sep 10;56(1):40-45. doi: 10.1002/jmd2.12165. eCollection 2020 Nov.

Long-chain fatty-acyl CoA dehydrogenase deficiency (LCHADD) is an inborn error of long chain fatty acid oxidation with various features including hypoketotic hypoglycemia, recurrent rhabdomyolysis, pigmentary retinopathy, peripheral neuropathy, cardiomyopathy, and arrhythmias. Various stresses trigger metabolic decompensation. Coronavirus disease 2019...

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.

International journal of neonatal screening

Burton BK, Charrow J, Hoganson GE, Fleischer J, Grange DK, Braddock SR, Hitchins L, Hickey R, Christensen KM, Groepper D, Shryock H, Smith P, Shao R, Basheeruddin K.
PMID: 33073003
Int J Neonatal Screen. 2020 Jan 21;6(1):4. doi: 10.3390/ijns6010004. eCollection 2020 Mar.

Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30 September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) were screen positive. A total of 29 cases of Pompe disease...

Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

Molecular genetics & genomic medicine

Goodwin AF, Larson JR, Jones KB, Liberton DK, Landan M, Wang Z, Boekelheide A, Langham M, Mushegyan V, Oberoi S, Brao R, Wen T, Johnson R, Huttner K, Grange DK, Spritz RA, Hallgrímsson B, Jheon AH, Klein OD.
PMID: 25333067
Mol Genet Genomic Med. 2014 Sep;2(5):422-9. doi: 10.1002/mgg3.84. Epub 2014 May 20.

Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked...

Kir6.1- and SUR2-dependent KATP over-activity disrupts intestinal motility in murine models of Cantu Syndrome.

JCI insight

York NW, Parker H, Xie Z, Tyus D, Waheed MA, Yan Z, Grange DK, Remedi MS, England SK, Hu H, Nichols CG.
PMID: 33170808
JCI Insight. 2020 Nov 10; doi: 10.1172/jci.insight.141443. Epub 2020 Nov 10.

Cantύ Syndrome (CS), caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunit genes, is frequently accompanied by gastrointestinal (GI) dysmotility, and we describe one CS patient who required an implanted...

Showing 1 to 12 of 39 entries