0022-2151 < 0022-2593 < 0022-3042

Facettes : Author.f

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 ; N. Haschke ; C. Kohlhauser ; G. Amman ; U. Unterberger ; M. Weninger	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 ; C. Cavicchi ; T. Bardelli ; D. Antuzzi ; R. Parini ; M. Di Rocco ; S. Feriozzi ; O. Gabrielli ; R. Barone ; G. Pistone ; C. Spisni ; R. Ricci ; E. Zammarchi	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 ; B. Coppin ; R. James ; D. Skuse ; P. Jacobs	Three patients with a 45,X/46,X,psu dic(Xp) karyotype.
000580 (2009)	A. Ghalamkarpour ; W. Holnthoner ; P. Saharinen ; L M Boon ; J B Mulliken ; K. Alitalo ; M. Vikkula	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 ; M. Tartaglia ; B D Gelb ; K. Fridrich ; S. Sachs ; C A Stratakis ; M. Muenke ; P G Robey ; M T Collins ; 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 ; J S Sequeira ; M. Malone ; S F Slaney ; P T Clayton	Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
001966 (2008)	E. Denayer ; Th De Ravel ; E. Legius	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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