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Journal of Medical Genetics
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Journal of Medical Genetics
The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1)
Zenjiro
Matsuyama
,
Yuishin
Izumi
,
Masakuni
Kameyama
,
Hideshi
Kawakami
,
Shigenobu
Nakamura
Journal of Medical Genetics
Jul 1999,
36
(7)
546-548;
DOI:
10.1136/jmg.36.7.546
Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome
Maria
Tzancheva
,
Radka
Kaneva
,
Philip
Kumanov
,
Gareth
Williams
,
Chris
Tyler-Smith
Journal of Medical Genetics
Jul 1999,
36
(7)
549-553;
DOI:
10.1136/jmg.36.7.549
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling
Anne
Moncla
,
Perrine
Malzac
,
Marie-Odile
Livet
,
Marie-Antoinette
Voelckel
,
Josette
Mancini
,
Jean Christophe
Delaroziere
,
Nicole
Philip
,
Jean-François
Mattei
Journal of Medical Genetics
Jul 1999,
36
(7)
554-560;
DOI:
10.1136/jmg.36.7.554
Fragile X syndrome with FMR1 and FMR2 deletion
S J
Moore
,
L
Strain
,
G F
Cole
,
Z
Miedzybrodzka
,
K F
Kelly
,
J C S
Dean
Journal of Medical Genetics
Jul 1999,
36
(7)
565-566;
DOI:
10.1136/jmg.36.7.565
A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis
K M
Cornish
,
G
Cross
,
A
Green
,
L
Willatt
,
J M
Bradshaw
Journal of Medical Genetics
Jul 1999,
36
(7)
567-570;
DOI:
10.1136/jmg.36.7.567
Clinical mitochondrial genetics
Patrick F
Chinnery
,
Neil
Howell
,
Richard M
Andrews
,
Douglass M
Turnbull
Journal of Medical Genetics
Jun 1999,
36
(6)
425-436;
DOI:
10.1136/jmg.36.6.425
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
P L
Beales
,
N
Elcioglu
,
A S
Woolf
,
D
Parker
,
F A
Flinter
Journal of Medical Genetics
Jun 1999,
36
(6)
437-446;
DOI:
10.1136/jmg.36.6.437
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus
Jean-Michet
Rozet
,
Sylvie
Gerber
,
Imad
Ghazi
,
Isabelle
Perrault
,
Dominique
Ducroq
,
Eric
Souied
,
Annick
Cabot
,
Jean-Louis
Dufier
,
Arnold
Munnich
,
Josseline
Kaplan
Journal of Medical Genetics
Jun 1999,
36
(6)
447-451;
DOI:
10.1136/jmg.36.6.447
Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome
Kamila
Kusz
,
Maciej
Kotecki
,
Alina
Wojda
,
Maria
Szarras-Czapnik
,
Anna
Latos-Bielenska
,
Alina
Warenik-Szymankiewicz
,
Anna
Ruszczynska-Wolska
,
Jadwiga
Jaruzelska
Journal of Medical Genetics
Jun 1999,
36
(6)
452-456;
DOI:
10.1136/jmg.36.6.452
Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes
L I
Al-Gazali
,
L
Sztriha
,
A
Dawodu
,
E
Varady
,
M
Bakir
,
A
Khdir
,
J
Johansen
Journal of Medical Genetics
Jun 1999,
36
(6)
461-466;
DOI:
10.1136/jmg.36.6.461
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