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Volume 38; Issue 12
Main
Journal of Medical Genetics
Volume 38; Issue 12
Journal of Medical Genetics
Volume 38; Issue 12
1
A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour
Eccles, D.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 995 KB
Vos balises:
english, 2001
2
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
Gong, W.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 238 KB
Vos balises:
english, 2001
3
Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child
Rothlisberger, B.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 995 KB
Vos balises:
english, 2001
4
Maternal uniparental isodisomy 11q13right-arrowqter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13right-arrowqter
Kotzot, D.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 995 KB
Vos balises:
english, 2001
5
Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications
Bourdon, V.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 995 KB
Vos balises:
english, 2001
6
Eight years' experience of direct molecular testing for myotonic dystrophy in Wales
Fokstuen, S.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 175 KB
Vos balises:
english, 2001
7
Sponastrime dysplasia: presentation in infancy
Offiah, A C
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 995 KB
Vos balises:
english, 2001
8
Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations
Andersen, P. S.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 403 KB
Vos balises:
english, 2001
9
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
Lossie, A C
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 286 KB
Vos balises:
english, 2001
10
Decoding Darkness - The Search for the Genetic Causes of Alzheimer's Disease.
HO, L. W
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 72 KB
Vos balises:
english, 2001
11
Detection of a large TBX5 deletion in a family with Holt-Oram syndrome
Akrami, S. M
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 167 KB
Vos balises:
english, 2001
12
Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy
Amiel, J.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 939 KB
Vos balises:
english, 2001
13
Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders
Imamura, A.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 995 KB
Vos balises:
english, 2001
14
Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)
Kobayashi, I.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 939 KB
Vos balises:
english, 2001
15
Presymptomatic testing in myotonic dystrophy: genetic counselling approaches
Fokstuen, S.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 995 KB
Vos balises:
english, 2001
16
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association
Reardon, W.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 284 KB
Vos balises:
english, 2001
17
Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1
Eng, C.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 311 KB
Vos balises:
english, 2001
18
A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family
Montera, M.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 995 KB
Vos balises:
english, 2001
19
Correction for vol. 37, p. 241
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 72 KB
Vos balises:
english, 2001
20
Psychological studies in Huntington's disease: making up the balance
Duisterhof, M.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 995 KB
Vos balises:
english, 2001
21
High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 in a chorionic villus sample
Ehrlich, M.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 978 KB
Vos balises:
english, 2001
22
JMG Online: exploiting the potential of electronic publication and manuscript submission
MAHER, E. R
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 59 KB
Vos balises:
english, 2001
23
De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity
Talks, S J.
Journal:
Journal of Medical Genetics
Année:
2001
Langue:
english
Fichier:
PDF, 240 KB
Vos balises:
english, 2001
1
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