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Volume 45; Issue 8
Main
Journal of Medical Genetics
Volume 45; Issue 8
Journal of Medical Genetics
Volume 45; Issue 8
1
X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits
Kent, L
,
Emerton, J
,
Bhadravathi, V
,
Weisblatt, E
,
Pasco, G
,
Willatt, L R
,
McMahon, R
,
Yates, J R W
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 216 KB
Your tags:
english, 2008
2
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome
de Alencastro, G
,
McCloskey, D E
,
Kliemann, S E
,
Maranduba, C M C
,
Pegg, A E
,
Wang, X
,
Bertola, D R
,
Schwartz, C E
,
Passos-Bueno, M R
,
Sertie, A L
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 429 KB
Your tags:
english, 2008
3
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders
Nystrom, A-M
,
Ekvall, S
,
Berglund, E
,
Bjorkqvist, M
,
Braathen, G
,
Duchen, K
,
Enell, H
,
Holmberg, E
,
Holmlund, U
,
Olsson-Engman, M
,
Anneren, G
,
Bondeson, M-L
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 870 KB
Your tags:
english, 2008
4
The fragile X prevalence paradox
Hagerman, P. J
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 180 KB
Your tags:
english, 2008
5
Double outlet right ventricle: aetiologies and associations
Obler, D
,
Juraszek, A L
,
Smoot, L B
,
Natowicz, M R
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 283 KB
Your tags:
english, 2008
6
A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations
Bryant, J
,
Cooper, K
,
Picot, J
,
Clegg, A
,
Roderick, P
,
Rosenberg, W
,
Patch, C
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 168 KB
Your tags:
english, 2008
7
Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNALeu mutation
van Eijsden, R G E
,
Eijssen, L M T
,
Lindsey, P J
,
van den Burg, C M M
,
de Wit, L E A
,
Rubio-Gozalbo, M E
,
de Die, C E M
,
Ayoubi, T
,
Sluiter, W
,
de Coo, I F M
,
Smeets, H J M
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 274 KB
Your tags:
english, 2008
8
The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome
Zollino, M
,
Murdolo, M
,
Neri, G
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 72 KB
Your tags:
english, 2008
9
A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site
Felderbauer, P
,
Schnekenburger, J
,
Lebert, R
,
Bulut, K
,
Parry, M
,
Meister, T
,
Schick, V
,
Schmitz, F
,
Domschke, W
,
Schmidt, W E
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 597 KB
Your tags:
english, 2008
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