List of bibliographic references
Number of relevant bibliographic references: 113.
[0-20] [
0 - 20][
0 - 50][
20-40]
| Ident. | Authors (with country if any) | Title |
|---|
| 000149 (1998) |
A. Berger [Autriche] ; N. Haschke [Autriche] ; C. Kohlhauser [Autriche] ; G. Amman [Autriche] ; U. Unterberger [Autriche] ; M. Weninger [Autriche] | Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism. |
| 000167 (1987) |
| Correction |
| 000179 (2001) |
J E Whittington ; A J Holland ; T. Webb ; J. Butler ; D. Clarke ; H. Boer | Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region |
| 000205 (2002) |
| Author index |
| 000271 (2003) |
A. Morrone [Italie] ; C. Cavicchi [Italie] ; T. Bardelli [Italie] ; D. Antuzzi [Italie] ; R. Parini [Italie] ; M. Di Rocco [Italie] ; S. Feriozzi [Italie] ; O. Gabrielli [Italie] ; R. Barone [Italie] ; G. Pistone [Italie] ; C. Spisni [Italie] ; R. Ricci [Italie] ; E. Zammarchi [Italie] | Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers |
| 000393 (1970) |
G J Bargman ; R L Neu ; H O Powers ; L I Gardner | A 46,XX,t(Cp+;Cq-) translocation in a girl with multiple congenital anomalies and in her phenotypically normal father 46,XY,t(Cq+;Cq-). |
| 000426 (1998) |
P. Dalton [Royaume-Uni] ; B. Coppin [Royaume-Uni] ; R. James [Royaume-Uni] ; D. Skuse [Royaume-Uni] ; P. Jacobs [Royaume-Uni] | Three patients with a 45,X/46,X,psu dic(Xp) karyotype. |
| 000580 (2009) |
A. Ghalamkarpour [Belgique] ; W. Holnthoner [Finlande] ; P. Saharinen [Finlande] ; L M Boon [Belgique] ; J B Mulliken [États-Unis] ; K. Alitalo [Finlande] ; M. Vikkula [Belgique] | Recessive primary congenital lymphoedema caused by a VEGFR3 mutation |
| 000637 (1979) |
I. Kondo ; H. Hamaguchi ; A. Matsuura ; H. Nakajima ; A. Koyama ; H. Takita | A case of Turner's syndrome with familial balanced translocation t(1;2)(q32;q21)mat. |
| 000872 (2002) |
| Subject index |
| 000D62 (1984) |
O A Badejo | Familial occurrence of unilateral giant breasts in Nigeria: a possible new genetic entity. |
| 001046 (1999) |
Maria Tzancheva ; Radka Kaneva ; Philip Kumanov ; Gareth Williams ; Chris Tyler-Smith | Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome |
| 001069 (2001) |
K D Macdermot ; A. Holmes ; A H Miners | Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females |
| 001114 (1986) |
D A Couzin ; N. Haites ; J L Watt ; A W Johnston | Partial trisomy 7 (q32----qter) syndrome in two children. |
| 001301 (2001) |
K D Macdermot ; A. Holmes ; A H Miners | Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males [Original article] [Original article] |
| 001385 (2005) |
M Y M. Ng ; T. Andrew ; T D Spector ; S. Jeffery | Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs |
| 001834 (2005) |
J S Lee [États-Unis] ; M. Tartaglia [Italie, États-Unis] ; B D Gelb [États-Unis] ; K. Fridrich [États-Unis] ; S. Sachs ; C A Stratakis ; M. Muenke ; P G Robey [États-Unis] ; M T Collins [États-Unis] ; A. Slavotinek | Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome |
| 001901 (1985) |
R F Dale | The inheritance of primary lymphoedema. |
| 001920 (1997) |
A A Morris [Royaume-Uni] ; J S Sequeira [Royaume-Uni] ; M. Malone [Royaume-Uni] ; S F Slaney [Royaume-Uni] ; P T Clayton [Royaume-Uni] | Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome). |
| 001966 (2008) |
E. Denayer [Belgique] ; Th De Ravel [Belgique] ; E. Legius [Belgique] | Clinical and molecular aspects of RAS related disorders |
| 001A00 (1999) |
L. Stuppia ; G. Calabrese ; P. Borrelli ; V. Gatta ; E. Morizio ; R. Mingarelli ; M C Di Gilio ; A. Crin ; A. Giannotti ; G A Rappold ; G. Palka | Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male |
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