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Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation.
Kruis T, Klammt J, Galli-Tsinopoulou A, Wallborn T, Schlicke M, Müller E, Kratzsch J, Körner A, Odeh R, Kiess W, Pfäffle R. Kruis T, et al. Among authors: muller e. J Clin Endocrinol Metab. 2010 Mar;95(3):1137-42. doi: 10.1210/jc.2009-1433. Epub 2010 Jan 26. J Clin Endocrinol Metab. 2010. PMID: 20103656
A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation.
Wallborn T, Wüller S, Klammt J, Kruis T, Kratzsch J, Schmidt G, Schlicke M, Müller E, van de Leur HS, Kiess W, Pfäffle R. Wallborn T, et al. Among authors: muller e. J Clin Endocrinol Metab. 2010 May;95(5):2316-24. doi: 10.1210/jc.2009-2404. Epub 2010 Mar 31. J Clin Endocrinol Metab. 2010. PMID: 20357178
Thyroid disorders revisited.
Kiess W, Penke M, Gesing J, Hoppmann J, Müller E, Körner A, Kratzsch J, Pfaeffle R. Kiess W, et al. Among authors: muller e. J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):731-3. doi: 10.1515/jpem-2015-0251. J Pediatr Endocrinol Metab. 2015. PMID: 26167975 Free article. No abstract available.
Turner syndrome - working together with patients and their families.
Kiess W, Penke M, Gorski T, Körner A, Hoppmann J, Müller E, Gesing J, Pfaeffle R. Kiess W, et al. Among authors: muller e. J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1199-201. doi: 10.1515/jpem-2015-0411. J Pediatr Endocrinol Metab. 2015. PMID: 26536580 No abstract available.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J. Mullegama SV, et al. Among authors: muller e 2nd. Am J Hum Genet. 2024 May 14:S0002-9297(24)00167-8. doi: 10.1016/j.ajhg.2024.05.004. Online ahead of print. Am J Hum Genet. 2024. PMID: 38749428 No abstract available.
Assessing the hydromechanical control of plant growth.
Laplaud V, Muller E, Demidova N, Drevensek S, Boudaoud A. Laplaud V, et al. Among authors: muller e. J R Soc Interface. 2024 May;21(214):20240008. doi: 10.1098/rsif.2024.0008. Epub 2024 May 8. J R Soc Interface. 2024. PMID: 38715319
3,049 results