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Author/Creator Kayserili, H

2. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. Issue 3 (9th December 2008)

Authors:
Bartholdi, D; Krajewska-Walasek, M; Õunap, K; Gaspar, H; Chrzanowska, K H; Ilyana, H; Kayserili, H; Lurie, I W; Schinzel, A; Baumer, A
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 3(2009)
Page Start:
192
Record Type:
Journal Article
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3. Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. Issue 4 (24th September 2009)

Authors:
Harville, H M; Held, S; Diaz-Font, A; Davis, E E; Diplas, B H; Lewis, R A; Borochowitz, Z U; Zhou, W; Chaki, M; MacDonald, J; Kayserili, H; Beales, P L; Katsanis, N; Otto, E; Hildebrandt, F
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 4(2010)
Page Start:
262
Record Type:
Journal Article
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4. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. Issue 8 (8th June 2009)

Authors:
Furuichi, T; Kayserili, H; Hiraoka, S; Nishimura, G; Ohashi, H; Alanay, Y; Lerena, J C; Aslanger, A D; Koseki, H; Cohn, D H; Superti-Furga, A; Unger, S; Ikegawa, S
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 8(2009)
Page Start:
562
Record Type:
Journal Article
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5. Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. Issue 2 (7th February 2006)

Authors:
Uzumcu, A; Norgett, E E; Dindar, A; Uyguner, O; Nisli, K; Kayserili, H; Sahin, S E; Dupont, E; Severs, N J; Leigh, I M; Yuksel-Apak, M; Kelsell, D P; Wollnik, B
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 2(2006)
Page Start:
e05
Record Type:
Journal Article
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6. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. Issue 1 (1st July 2009)

Authors:
Vega, H; Trainer, A H; Gordillo, M; Crosier, M; Kayserili, H; Skovby, F; Uzielli, M L Giovannucci; Schnur, R E; Manouvrier, S; Blair, E; Hurst, J A; Forzano, F; Meins, M; Simola, K O J; Raas-Rothschild, A; Hennekam, R C M; Jabs, E Wang
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 1(2010)
Page Start:
30
Record Type:
Journal Article
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7. Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. Issue 4 (16th December 2008)

Authors:
Willaert, A; Malfait, F; Symoens, S; Gevaert, K; Kayserili, H; Megarbane, A; Mortier, G; Leroy, J G; Coucke, P J; De Paepe, A
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 4(2009)
Page Start:
233
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗