8 research outputs found
Fructose-1,6-diphosphatase Deficiency and Glyceroluria: One Possible Etiology for GIS
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Micro extraction of DNA from whole blood and amniocytes
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Rapid and effective processing of blood specimens for diagnostic PCR using filter paper and Chelex-100
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
- Author
- B T Poll-The
- Baba H.
- Blomquist H.K.
- Bonnefont J.P.
- D R Sjarif
- Deary U.
- Dietz H.C.
- F A Beemer
- Guo W.
- Guo W.
- Huq A.H.M.M.
- Huq A.H.M.M.
- J K Ploos van Amstel
- Jahoor F.
- Krawczak M.
- M Duran
- McCabe E.R.
- McCabe E.R.B.
- McIntosh I.
- Patel D.
- R J Sinke
- Sargent C.A.
- Scheuerle A.
- Senapathy P.
- W J Kleijer
- Walker A.P.
- Walker A.P.
- Wapnir R.A.
- Willard H.F.
- Wise J.E.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Thirty-eight of 47 patients with autosomal-recessive hyper-IgE syndrome carry deletions and point mutations in Dock8
- Author
- A. Chen
- A. Degerliyurt
- A. El Marsafi
- A. Gennery
- A. Megarbane
- A. Metin
- A. Plebani
- A. Sassi
- A. Somer
- B. Grimbacher
- C. Klein
- C. Woellner
- D. Pfeifer
- D.R. McDonald
- E. Karakoc-Aydiner
- E.R.B. McCabe
- F. Genel
- G. Dbaibo
- G. Lefranc
- G. Lopez-Herrera
- H. Sook Kim
- H. Veelken
- I. Barlan
- I. Reisli
- I. Schulze
- J. Boutros
- J. Thiel
- J.M. Puck
- K. Siepermann
- K.R. Engelhardt
- L. Graham
- L. Schneider
- M. Dasouki
- M. Garcia Lloret
- M. Yeganeh
- M.C. Pietrogrande
- N. Galal
- N. Kutukculer
- P.D. Arkwright
- R. Badolato
- R. Wakim
- R.S. Geha
- S. Al-Tamemi
- S. Ehl
- S. Keles
- S. McGhee
- S. Sebnem Kilic
- S. Weinspach
- S. Winkler
- S.M. Holland
- T. Niehues
- T.A. Chatila
- W. Al-Herz
- Y. Camcioglu
- Z. Baz
- Publication venue
- Publication date
- 01/01/2010
- Field of study
Universal newborn screening: A roadmap for action
- Author
- A. Umemoto
- Anie
- B. Cedergren
- B.L. Therrell
- Borrajo
- Borrajo
- Borrajo
- Botler
- C.D. Padilla
- C.P. Howson
- C.S. Palubiak
- CEPAL (Economic Commission for Latin America)
- Chen
- Chen
- Christianson
- Darmstadt
- de Carvalho
- E.R.B. McCabe
- ECLAC
- Estatuto da Criança e do Adolescente
- Giugliani
- Government of China
- Government of China
- Gu
- I.V.D. Schwartz
- ICMR
- J. Wang
- Kapoor
- Kuznik
- Laurino
- Liu
- M.D. Santos
- March of Dimes World Health Organization
- McCabe
- McGann
- McGann
- McGann
- McKeown
- Munyanganizi
- N. Zhong
- Nair
- Ndeezi
- Newborn Screening In Europe Expert Opinion Document
- Ohene-Frempong
- Oxford English Dictionary
- P. Huhtinen
- Padilla
- Padilla
- Padilla
- Padilla
- Penang Declaration
- Portal da Saúde
- Queiruga
- R. Giugliani
- RBSK
- Rodriguez
- Schmidt
- Schmidt
- Schmidt
- Shen
- SLEIMPN
- Therrell
- Therrell
- Treadwell
- Tshilolo
- Ulaanbaatar Declaration
- UN Inter-agency Group for Child Mortality Estimation (IGME)
- UNICEF
- Verma
- World Health Organization
- X. Zeng
- X. Zhao
- Xue
- Zeng
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Gaucher disease: Current issues in diagnosis and treatment
- Author
- Aerts J.M.F.G.
- Alexander D.F.
- Barranger J.A.
- Barton N.W.
- Beitins I.Z.
- Berman R.E.
- Beutler E.
- Brady R.O.
- Collins F.S.
- Cowdry R.W.
- Cox T.M.
- Ekstein J.
- Elliott J.M.
- Eng C.M.
- Erikson A.
- Ferguson J.H.
- Findling D.M.
- Fine B.A.
- Garber A.M.
- Ginns E.I.
- Golbus M.S.
- Gorden P.
- Grabowski G.A.
- Greenhouse J.B
- Groft S.
- Hall W.H.
- Hall Z.W.
- Hill S.C.
- Hollack C.E.M.
- Kaback M.M.
- Lee R.E.
- Mankin H.J.
- McCabe E.R.B
- McGrath G.L.
- McKeon C.
- Miranda M.C.S.
- Mistry P.K.
- Moscicki R.A.
- Murray G.J.
- Natowicz M.
- New M.
- Nitkin R.M.
- OBrien W.E.
- Pastores G.M.
- Rowley P.T.
- Schlesinger S.L.
- Sheridan P.H.
- Sidransky E.
- Sly W.S.
- Spence M.A.
- Stockman J.A.
- Vaitukaitis J.L.
- Ware J.E.
- Weeks M.
- Whyte M.
- Willemsen R.
- Wilson W.
- Wolf B.
- Zaizov R.
- Zimran A.
- Publication venue
- 'American Medical Association (AMA)'
- Publication date
- 21/02/1996
- Field of study
FWN – Publicaties zonder aanstelling Universiteit Leide
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
- Author
- Anad F.
- Andersen L.B.
- Anderson M.
- Arai E.
- Augusseau S.
- Ballabio A.
- Ballabio A.
- Bass E.B.
- Bawle E.
- Bernstein R.
- Bitoun P.
- Bodrug S.E.
- Bodrug S.E.
- Bodrug S.E.
- Boyd Y.
- Boyd Y.
- Breuning M.H.
- Bridge J.
- Brown K.W.
- Brueton L.
- Butler M.G.
- Cannizzaro L.A.
- Cassidy S.B.
- Chamberlin J.
- Chandley A.C.
- Chelly J.
- Chumakov I.
- Clayton-Smith J.
- Cohen M.M.
- Collins F.A.
- Collins F.S.
- Cremers F.P.M.
- Crolla J.A.
- Cross I.
- Daniel A.
- Davis L.M.
- de Cytogeneticiens Francais Groupe
- de Cytogeneticiens Francais Groupe
- de Grouchy J
- de Saint-Basile G
- Diaz-Castanos L.R.
- Driscoll D.A.
- Ebensperger C.
- Edwards J.H.
- Ejima Y.
- Ellison K.A.
- Emanuel B.S.
- Fantes J.A.
- Ferguson-Smith M.A.
- Flannery D.B.
- Foote S.
- Frezal J.
- Fryns J.P.
- Fujita H.
- Fukushima Y.
- Funderburk S.J.
- Giacalone J.P.
- Giannotti A.
- Gilgenkrantz S.
- Goldblatt J.
- Gorlin R.J.
- Gorski J.L.
- Greenberg F.
- Greenberg F.
- Gurrieri F.
- Haan E.A.
- Haas O.A.
- Hamabe J.
- Hamabe J.
- Hamers A.
- Happle R.
- Harris A.
- Hatziioannou A.
- Henry I.
- Higgins M.J.
- Hodgson S.V.
- Hodgson S.V.
- Holmquist G.P.
- Hoo J.J.
- Hotta Y.
- Houston C.S.
- Imaizumi K.
- Imaizumi K.
- JCC De Almeida
- Jewett T.
- JF Jr, Fraumeni
- Journel H.
- Kaffe S.
- Kajii T.
- Kaplan J.
- Kapur S.
- Kayes L.M.
- Kean V.M.
- Kelly D.
- Kiss P.
- Kobayashi T.
- Korenberg JR, Rykowski
- Kousseff B.G.
- Kruger G.
- Lacombe D.
- Lamont M.A.
- Ledbetter D.H.
- Lindenbaum R.H.
- Lindgren V.
- Ludecke H.J.
- Luke S.
- Lupski JR, Wise
- Lurie I.W.
- Lyons L.A.
- Ma K.
- MacDermot K.D.
- Maraia R.
- Matsumoto T.
- Mattei M.G.
- McCabe E.R.B.
- Meitinger T.
- Mercer J.F.B.
- Merry D.E.
- Mitchell C.D.
- Monaco A.P.
- Moore J.W.
- Moss C.
- Motegi T.
- Mueller O.T.
- N Tommerup
- Nakagome Y.
- Nakagome Y.
- Naritomi K.
- Naritomi K.
- Nicholls R.D.
- Niikawa N.
- Nisen P.
- Norman A.M.
- Ogle R.F.
- Pediatr J.
- Pembrey M.
- Pendergrass T.W.
- Pettenati M.J.
- Pettigrew A.L.
- Plougastel B.
- Porteous D.J.
- Pueschel S.M.
- Purvis-Smith S.G.
- Qumsiyeh M.B.
- Ray P.N.
- Riccardi V.M.
- Robinson D.
- Robinson D.O.
- Robinson W.P.
- Royer-Pokora B.
- Scambler P.J.
- Scambler P.J.
- Schmidt M.
- Schmidt M.
- Schmidt M.
- Schmidt M.A.
- Schwartz M.
- Sefiani A.
- Sefiani A.
- Shannon R.S.
- Sharland M.
- Simola K.O.J.
- Sinclair A.H.
- Siu V.M.
- Slee J.J.
- Speleman F.
- Stambolian D.
- Steele M.W.
- Therman E.
- Thomas N.S.T.
- Tommerup N.
- Tommerup N.
- Tommerup N.
- Tommerup N.
- Tommerup N.
- Tsukamoto K.
- Tumer Z.
- Turleau C.
- Turleau C.
- Turleau C.
- Turleau C.
- Verellen C.
- Viskochil D.
- Vortkamp A.
- Vortkamp A.
- Vulpe C.
- Wagner K.
- Webb T.
- Weinberg R.A.
- Weissenbach J.
- Wilkie A.O.
- Williams C.A.
- Williamson R.A.
- Wilson D.I.
- Wilson G.N.
- Winsor E.J.T.
- Wyandt H.E.
- Yamamoto Y.
- Yang H.M.
- Young I.D.
- Ziter F.A.
- Zoghbi H.Y.
- Zonana J.
- Publication venue
- 'BMJ'
- Publication date
- Field of study