Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6

Autor: Ratbi, I, Falkenberg, KD, Sommen, M, Al-Sheqaih, N, Guaoua, S, Vandeweyer, G, Urquhart, JE, Chandler, KE, Williams, SJ, Roberts, NA, El Alloussi, M, Black, GC, Ferdinandusse, S, Ramdi, H, Heimler, A, Fryer, A, Lynch, S, Cooper, N, Ong, KR, Smith, CEL, Inglehearn, CF, Mighell, AJ, Elcock, C, Poulter, JA, Tischkowitz, M, Davies, SJ, Sefiani, A, Mironov, AA, Newman, WG, Waterham, HR, Van Camp, G

Publikováno v: The American journal of human genetics
Ratbi, I, Falkenberg, K D, Sommen, M, Al-Sheqaih, N, Guaoua, S, Vandeweyer, G, Urquhart, J, Chandler, K E, Williams, S, Roberts, N, El Alloussi, M, Black, G, Ferdinandusse, S, Ramdi, H, Heimler, A, Fryer, A, Lynch, S-A, Cooper, N, Ong, K R, Smith, C E L, Inglehearn, C F, Mighell, A J, Elcock, C, Poulter, J A, Tischkowitz, M, Davies, S J, Sefiani, A, Mironov, A, Newman, W, Waterham, H R & Van Camp, G 2015, ' Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. ', American Journal of Human Genetics, vol. 97, no. 4, pp. 535-545 . https://doi.org/10.1016/j.ajhg.2015.08.011
American journal of human genetics, 97(4), 535-545. Cell Press

Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities and occasional or late onset retinal pigmentation. We ascertained eight families with HS, and - using a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7c7cfdea4a0813b99967b331b96a330c
https://hdl.handle.net/10067/1287660151162165141

Acute Intermittent Porphyria: Some Diagnoses are Only Made If Thought of

Autor: Roberts Na, Westwood Rl, Fox Ja, M. A. Fox

Publikováno v: Acute Medicine Journal. 7:134-136

A 20-year-old Asian, female, student nurse of thin body habitus (Body Mass Index 16.5) but otherwise previously well had numerous admissions to our centre under a variety of surgical sub-specialities over a 5-month period. Each month, coinciding with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0b9540105b661d0626a515e718462541
https://doi.org/10.52964/amja.0216

Development of the human pancreas from foregut to endocrine commitment

Autor: Jennings RE1, Berry AA, Kirkwood-Wilson R, Roberts NA, Hearn T, Salisbury RJ, Blaylock J, Piper Hanley K, Hanley NA.

Knowledge of human pancreas development underpins our interpretation and exploitation of human pluripotent stem cell (PSC) differentiation toward a β-cell fate. However, almost no information exists on the early events of human pancreatic specific

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2295::63fa390f3c1645b9151335f2aa1568f1

Combined Score of Perivascular Space Dilatation and White Matter Hyperintensities in Patients with Normal Cognition, Mild Cognitive Impairment, and Dementia

Autor: Nauris Zdanovskis, Ardis Platkājis, Andrejs Kostiks, Kristīne Šneidere, Ainārs Stepens, Roberts Naglis, Guntis Karelis

Publikováno v: Medicina, Vol 58, Iss 7, p 887 (2022)

Background and Objectives: Cerebral perivascular spaces (PVS) are part of the cerebral microvascular structure and play a role in lymphatic drainage and the removal of waste products from the brain. White matter hyperintensities (WMH) are hyperintens

Externí odkaz: https://doaj.org/article/89d1cb6447a3441fac3bac8cd683625f

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.