Skip navigation
Home
Browse
Communities
& Collections
Browse Items by:
Issue Date
Author
Title
Advisor
Help
Sign on to:
My DSpace
Receive email
updates
Edit Profile
Adelaide Research & Scholarship
Adelaide Research & Scholarship
Search
Search:
All collections
Schools and Disciplines
School of Paediatrics & Reproductive Health
Paediatrics
Paediatrics publications
for
Current filters:
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Start a new search
Add filters:
Use filters to refine the search results.
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Results 1-7 of 7 (Search time: 0.002 seconds).
previous
1
next
Item hits:
Preview
Issue Date
Title
Author(s)
2003
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency
Birrell, G.
;
Lampe, A.
;
Richmond, S.
;
Bruce, S.
;
Gecz, J.
;
Lower, K.
;
Wright, M.
2004
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations
Turner, G.
;
Lower, K.
;
White, S.
;
Delatycki, M.
;
Lampe, A.
;
Wright, M.
;
Clayton-Smith, J.
;
Kerr, B.
;
Schelley, S.
;
Hoyme, H.
;
de Vries, B.
;
Kleefstra, T.
;
Grompe, M.
;
Cox, B.
;
Gecz, J.
;
Partington, M.
2004
1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family
Lower, K.
;
Solders, G.
;
Bondeson, M.
;
Nelson, J.
;
Brun, A.
;
Crawford, J.
;
Malm, G.
;
Borjeson, M.
;
Turner, G.
;
Partington, M.
;
Gecz, J.
2006
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient
Crawford, J.
;
Lower, K.
;
Hennekam, R.
;
Van Esch, H.
;
Megarbane, A.
;
Lynch, S.
;
Turner, G.
;
Gecz, J.
2003
Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome
Baumstark, A.
;
Lower, K.
;
Sinkus, A.
;
Andriuskeveviciute, I.
;
Jurkeniene, L.
;
Gecz, J.
;
Just, W.
2009
Börjeson-Forssman-Lehmann Syndrome
Crawford, J.
;
Partington, M.
;
Corbett, M.
;
Lower, K.
;
Gecz, J.
;
Beales, P.
;
Farooqi, I.
;
O'Rahilly, S.
2001
Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for x-linked mental retardation: Mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27
Lower, K.
;
Gecz, J.
Discover
Author
3
Crawford, J.
3
Partington, M.
3
Turner, G.
2
Lampe, A.
2
Wright, M.
1
Andriuskeveviciute, I.
1
Baumstark, A.
1
Beales, P.
1
Birrell, G.
1
Bondeson, M.
.
next >
Subject
4
Humans
4
Syndrome
3
Male
2
Abnormalities, Multiple
2
DNA
2
DNA Mutational Analysis
2
Female
2
Gene Expression
2
Genetic Linkage
2
Genetic Predisposition to Disease
.
next >
Date issued
1
2009
1
2006
2
2004
2
2003
1
2001