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Volume 46; Issue 4
Main
Journal of Medical Genetics
Volume 46; Issue 4
Journal of Medical Genetics
Volume 46; Issue 4
1
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
Miller, D T
,
Shen, Y
,
Weiss, L A
,
Korn, J
,
Anselm, I
,
Bridgemohan, C
,
Cox, G F
,
Dickinson, H
,
Gentile, J
,
Harris, D J
,
Hegde, V
,
Hundley, R
,
Khwaja, O
,
Kothare, S
,
Luedke, C
,
Nasir, R
,
Poduri, A
,
Pras
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 342 KB
Your tags:
english, 2009
2
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
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
Year:
2009
Language:
english
File:
PDF, 1.74 MB
Your tags:
english, 2009
3
Risk reducing mastectomy: outcomes in 10 European centres
Evans, D G R
,
Baildam, A D
,
Anderson, E
,
Brain, A
,
Shenton, A
,
Vasen, H F A
,
Eccles, D
,
Lucassen, A
,
Pichert, G
,
Hamed, H
,
Moller, P
,
Maehle, L
,
Morrison, P J
,
Stoppat-Lyonnet, D
,
Gregory, H
,
Smyth, E
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 134 KB
Your tags:
english, 2009
4
GPR98 mutations cause Usher syndrome type 2 in males
Ebermann, I
,
Wiesen, M H J
,
Zrenner, E
,
Lopez, I
,
Pigeon, R
,
Kohl, S
,
Lowenheim, H
,
Koenekoop, R K
,
Bolz, H J
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 1.27 MB
Your tags:
english, 2009
5
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family
Hilgert, N
,
Kahrizi, K
,
Dieltjens, N
,
Bazazzadegan, N
,
Najmabadi, H
,
Smith, R J H
,
Van Camp, G
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 503 KB
Your tags:
english, 2009
6
Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial
Schmidt, H
,
Kern, W
,
Giese, R
,
Hallschmid, M
,
Enders, A
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 583 KB
Your tags:
english, 2009
7
Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)
Tucker, T
,
Schnabel, C
,
Hartmann, M
,
Friedrich, R E
,
Frieling, I
,
Kruse, H-P
,
Mautner, V-F
,
Friedman, J M
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 646 KB
Your tags:
english, 2009
8
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia
Failly, M
,
Bartoloni, L
,
Letourneau, A
,
Munoz, A
,
Falconnet, E
,
Rossier, C
,
de Santi, M M
,
Santamaria, F
,
Sacco, O
,
DeLozier-Blanchet, C D
,
Lazor, R
,
Blouin, J-L
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 402 KB
Your tags:
english, 2009
9
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)
Romano, S
,
Bajolle, F
,
Valayannopoulos, V
,
Lyonnet, S
,
Colomb, V
,
de Barace, C
,
Vouhe, P
,
Pouard, P
,
Vuillaumier-Barrot, S
,
Dupre, T
,
de Keyzer, Y
,
Sidi, D
,
Seta, N
,
Bonnet, D
,
de Lonlay, P
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 91 KB
Your tags:
english, 2009
10
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
Hannes, F D
,
Sharp, A J
,
Mefford, H C
,
de Ravel, T
,
Ruivenkamp, C A
,
Breuning, M H
,
Fryns, J-P
,
Devriendt, K
,
Van Buggenhout, G
,
Vogels, A
,
Stewart, H
,
Hennekam, R C
,
Cooper, G M
,
Regan, R
,
Knight, S
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 1.23 MB
Your tags:
english, 2009
11
The molecular landscape of ASPM mutations in primary microcephaly
Nicholas, A K
,
Swanson, E A
,
Cox, J J
,
Karbani, G
,
Malik, S
,
Springell, K
,
Hampshire, D
,
Ahmed, M
,
Bond, J
,
Di Benedetto, D
,
Fichera, M
,
Romano, C
,
Dobyns, W B
,
Woods, C G
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 323 KB
Your tags:
english, 2009
12
A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
Berry-Kravis, E
,
Hessl, D
,
Coffey, S
,
Hervey, C
,
Schneider, A
,
Yuhas, J
,
Hutchison, J
,
Snape, M
,
Tranfaglia, M
,
Nguyen, D V
,
Hagerman, R
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 254 KB
Your tags:
english, 2009
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