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Volume 11; Issue 2
Main
Clinical Dysmorphology
Volume 11; Issue 2
Clinical Dysmorphology
Volume 11; Issue 2
1
An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping Bamforth syndrome, ANOTHER syndrome and methimazole embryopathy
Al-Gazali, L.I.
,
Hamid, Z.
,
Hertecant, J.
,
Bakir, M.
,
Nath, D.
,
Kakadekar, A.
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 275 KB
Your tags:
english, 2002
2
Kabuki syndrome: a review study of three hundred patients
Wessels, Marja W.
,
Brooks, Alice S.
,
Hoogeboom, Jeannette
,
Niermeijer, Martinus F.
,
Willems, Patrick J.
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 258 KB
Your tags:
english, 2002
3
Bowen-Conradi syndrome in non Hutterite infant
Micheil Innes, A.
,
Brian Lowry, R.
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 69 KB
Your tags:
english, 2002
4
Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2;12)(p25.1;q24.1)
Murray, R.S.
,
Keeling, J.W.
,
Ellis, P.M.
,
FitzPatrick, D.R.
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 157 KB
Your tags:
english, 2002
5
Sotos syndrome: two cases with severe scoliosis
Sweeney, Elizabeth
,
Fryer, Alan
,
Donnai, Dian
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 231 KB
Your tags:
english, 2002
6
Microdeletion 22q11.2, Kousseff syndrome and spina bifida
Seller, Mary J.
,
Mohammed, Shehla
,
Russell, Jo
,
Ogilvie, Caroline
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 138 KB
Your tags:
english, 2002
7
Facial appearance in glycogen storage disease type III
Cleary, M.A.
,
Walter, J.H.
,
Kerr, B.A.
,
Wraith, J.E.
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 311 KB
Your tags:
english, 2002
8
46,XY,der(3)t(1;3)(q23;p22): double aneuploidy at a new breakpoint
Joshi, S.N.
,
Ganesh, A.
,
Venugopalan, P.
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 101 KB
Your tags:
english, 2002
9
Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome
Brooks, Alice S.
,
van Dooren, Marieke
,
Hoogeboom, Jeannette
,
Gischler, Saskia
,
Willems, Patrick J.
,
Tibboel, Dick
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 203 KB
Your tags:
english, 2002
10
Bilateral anophthalmia and oesophageal atresia in a newborn female: a new case of the Anophthalmia-Oesophageal-Genital (AEG) syndrome
Menetrey, C??line
,
Belin, Val??rie
,
Odent, Sylvie
,
de Lumley, Lionel
,
Gilbert, Brigitte
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 138 KB
Your tags:
english, 2002
11
Male siblings with dyserythropoiesis, microcephaly and intrauterine growth retardation
Okajima, K.
,
Ito, T.
,
Wakita, A.
,
Suzuki, Y.
,
Nagahama, M.
,
Shamoto, M.
,
Eguchi, M.
,
Wada, Y.
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 312 KB
Your tags:
english, 2002
12
Guadalajara camptodactyly syndrome type I: report on a new case
Zechi-Ceide, R.M.
,
Guion-Almeida, M.L.
,
Richieri-Costa, A.
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 197 KB
Your tags:
english, 2002
13
Further delineation of mandibulofacial dysostosis: Toriello type
Puri, Ratna Dua
,
Phadke, Shubha R.
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 141 KB
Your tags:
english, 2002
14
Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings
Balc, Sevim
,
Oguz, Kader Karl
,
Frat, M. Murat
,
Boduroglu, Koray
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 287 KB
Your tags:
english, 2002
15
Unilateral split foot, torticollis, congenital heart defect and hydrocephaly: a new syndrome?
G??l, Davut
,
??nay, B??lent
,
Ulucan, Hakan
,
Akn, Rdvan
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 110 KB
Your tags:
english, 2002
16
Syndromic dystelephalangy
Chrzanowska, Krystyna
,
Kowalska, Aleksandra
,
Kozlowski, Kazimierz
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 402 KB
Your tags:
english, 2002
17
DOOR syndrome: report of three additional cases
F??lix, T??mis Maria
,
Karam, Simone de Menezes
,
Rosa, Valter Augusto Della
,
Moraes, Ana Maria S. Machado
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 227 KB
Your tags:
english, 2002
18
Bowen-Conradi syndrome
Lemire, Edmond G.
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 60 KB
Your tags:
english, 2002
19
Auriculo-condylar syndrome or new syndrome?
Divizi, M.T.
,
Cordone, A.
,
Bado, M.
,
Rosaia, L.
,
Cirillo Silengo, M.
,
Ravazzolo, R.
,
Lerone, M.
Journal:
Clinical Dysmorphology
Year:
2002
Language:
english
File:
PDF, 136 KB
Your tags:
english, 2002
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