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内部出版物
在“
Elsevier电子期刊
”中,
命中:
14
条,耗时:小于0.01 秒
1.
Kabuki
m
ake-up syndro
m
e with genitourinary ano
m
alies, ophthal
m
ologic features and hyperpig
m
entation in an Egyptian child
作者:
Rabah
M
.
Shawky
;
shawkyrabah
@yahoo.co
m
;
Radwa Ga
m
al
;
Nayera
M
ostafa
关键词:
Kabuki
m
ake-up syndro
m
e
;
Genitourinary ano
m
alies
;
Hyperpig
m
entation
;
M
ental retardation
刊名:Egyptian Journal of
M
edical Hu
m
an Genetics
出版年:2017
2.
C syndro
m
e with skeletal ano
m
alies,
m
ental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosu
m
in an Egyptian child
作者:
Rabah
M
.
Shawky
;
shawkyrabah
@yahoo.co
m
;
Radwa Ga
m
al
关键词:
C syndro
m
e
;
Skeletal ano
m
alies
;
M
ental retardation
;
Eye lid chalazion
;
Bitot&rsquo
;
s spots
;
Agenesis of corpus callosu
m
刊名:Egyptian Journal of
M
edical Hu
m
an Genetics
出版年:2017
3.
M
eier-Gorlin syndro
m
e: An additional Egyptian patient with gastroesophageal reflux, hydronephrosis, renal stones and hypoplastic labia
m
ajora and
m
inora with clitro
m
egaly
作者:
Rabah
M
.
Shawky
;
shawkyrabah
@yahoo.co
m
" class="auth_
m
ail" title="E-
m
ail the corresponding author
;
Radwa Ga
m
al
关键词:
M
eier&ndash
;
Gorlin syndro
m
e
;
Gastro esophageal reflux
;
Renal stones
;
Hypoplastic labia
m
ajora
;
Clitro
m
egaly
;
M
icrotia
;
Absent patella
;
Hydronephrosis
刊名:Egyptian Journal of
M
edical Hu
m
an Genetics
出版年:2016
4.
Christ-Sie
m
ens-Touraine syndro
m
e with cleft palate, absent nipples, gallstones and
m
ild
m
ental retardation in an Egyptian child
作者:
Rabah
M
.
Shawky
;
Radwa Ga
m
al
关键词:
Christ-Sie
m
ens-Touraine syndro
m
e
;
Cleft palate
;
Absent nipples
;
Gall stones
;
M
ental retardation
刊名:Egyptian Journal of
M
edical Hu
m
an Genetics
出版年:2016
5.
Genotyping of
m
annose-binding lectin (MBL2) codon 54 and pro
m
oter alleles in Egyptian infants with acute respiratory tract infections
作者:
Rabah
M
.
Shawky
;
Sherine
M
. Abd El-Fattah
;
Tarek
M
. Ka
m
al
;
M
oha
mm
ed A. Esa
;
Ghada H. El Nady
关键词:
M
annose binding lectin
;
Respiratory distress
;
M
BL2 gene
;
Poly
m
orphis
m
刊名:Egyptian Journal of
M
edical Hu
m
an Genetics
出版年:January, 2014
6.
Bilateral iris, choroid, optic nerve colobo
m
as and retinal detach
m
ent in an Egyptian patient with
m
ild Baraitser-Winter syndro
m
e
作者:
Rabah
M
.
Shawky
;
Heba Salah Abd-Elkhalek Elabd
;
Radwa Ga
m
al
关键词:
Baraitser&ndash
;
Winter syndro
m
e
;
Optic nerve colobo
m
a
;
Ptosis
;
M
ental retardation
刊名:Egyptian Journal of
M
edical Hu
m
an Genetics
出版年:January, 2014
7.
Intrafa
m
ilial variability in Si
m
pson-Golabi-Beh
m
el syndro
m
e with bilateral posterior ear lobule creases
作者:
Rabah
M
.
Shawky
;
Heba Salah Abd-Elkhalek
;
Shi
m
aa Gad
关键词:
Si
m
pson&ndash
;
Golabi&ndash
;
Beh
m
el syndro
m
e
;
Over growth syndro
m
es
;
Glypican (GPC) 3
;
Polydactyly
;
M
acroglossia
;
Accessory nipples
刊名:Egyptian Journal of
M
edical Hu
m
an Genetics
出版年:January, 2014
8.
Reduced penetrance in hu
m
an inherited disease
作者:
Rabah
M
.
Shawky
;
shawkyrabah
@yahoo.co
m
" class="auth_
m
ail
关键词:
Penetrance
;
Expressivity
;
Copy nu
m
ber variations
;
M
odifier genes
;
Epigenetics
;
Environ
m
ental factors
;
Oligogenic inheritance
;
Digenic inheritance
刊名:Egyptian Journal of
M
edical Hu
m
an Genetics
出版年:April, 2014
9.
Fa
m
ilial Peters Plus syndro
m
e with absent anal canal, sacral agenesis and sensorineural hearing loss: Expanding the clinical spectru
m
作者:
Rabah
M
.
Shawky
;
Solaf
M
. Elsayed
;
Heba S. Abd-Elkhalek
;
Shi
m
aa Gad
关键词:
Peters ano
m
aly
;
Corneal opacity
;
Absent anal canal
;
Deafness
刊名:Egyptian Journal of
M
edical Hu
m
an Genetics
出版年:2013
10.
Oral-facial-digital syndro
m
e type II: Transitional type between Mohr and Varadi
作者:
Rabah
M
.
Shawky
;
Solaf
M
. Elsayed
;
Heba S. Abd-Elkhalek
;
Shi
m
aa Gad
关键词:
Polydactyly
;
Cleft lip
;
Congenital heart
;
Oral-facial-digital syndro
m
e
;
M
ohr syndro
m
e
刊名:Egyptian Journal of
M
edical Hu
m
an Genetics
出版年:2013
1
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