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Volume 16; Issue 1
Main
Clinical Dysmorphology
Volume 16; Issue 1
Clinical Dysmorphology
Volume 16; Issue 1
1
WAGR syndrome: is the ???R??? always justified?
Termine, Cristiano
,
Parigi, Gian
,
Rossi, Maura
,
Romano, Piero
,
Balottin, Umberto
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 57 KB
Your tags:
english, 2007
2
Chromosome Y polysomy: a non-mosaic 49,XYYYY case
Paoloni-Giacobino, Ariane
,
Lespinasse, James
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 77 KB
Your tags:
english, 2007
3
Tibial agenesis???ectrodactyly syndrome associated with novel cardiovascular and bronchopulmonary malformations
Lee, Meng-Luen
,
Chen, Ming
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 212 KB
Your tags:
english, 2007
4
Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?
Nezarati, Marjan M.
,
Aftimos, Salim
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 246 KB
Your tags:
english, 2007
5
Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?
Garc??a-Ortiz, Jos?? El??as
,
Garc??a-Cruz, Diana
,
D??valos, Ingrid Patricia
,
Nazar??, Zamira
,
Garc??a-Cruz, Mar??a Olga
,
Casta??eda, V??ctor
,
Guti??rrez-Mendivil, Leonel
,
S??nchez-Corona, Jose
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 283 KB
Your tags:
english, 2007
6
Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum
Fisher, Richard B.
,
Pairaudeau, Peter W.
,
Innes, James R.
,
Bartlett, Richard J.V.
,
Crow, Yanick J.
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 159 KB
Your tags:
english, 2007
7
Short stature, ulnar deviation of hands with absent carpals and joint contractures: a new syndrome
Phadke, Shubha R.
,
Dalal, Ashwin
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 137 KB
Your tags:
english, 2007
8
Labyrinthine malformation in the 22q11.2 deletion syndrome
Hopsu, Erkki
,
Markkola, Antti
,
Pitk??ranta, Anne
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 94 KB
Your tags:
english, 2007
9
A family with autosomal dominant oculo-auriculo-vertebral spectrum
Tasse, Christiane
,
Majewski, Frank
,
B??hringer, Stefan
,
Fischer, Sven
,
L??decke, Hermann-Josef
,
Gillessen-Kaesbach, Gabriele
,
Wieczorek, Dagmar
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 193 KB
Your tags:
english, 2007
10
Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez???L??pez-Hern??ndez syndrome
Bowdin, Sarah
,
Phelan, Ethna
,
Watson, Rosemarie
,
McCreery, Kathryn M.
,
Reardon, William
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 274 KB
Your tags:
english, 2007
11
Arthrogryposis, renal tubular acidosis and cholestasis syndrome: spectrum of the clinical manifestations
Mikati, Mohamad A.
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 35 KB
Your tags:
english, 2007
12
Maternal complex chromosome rearrangements involving five chromosomes 1, 4, 10, 12 and 20 ascertained through a del(4)(p14p15) detected in a mother??s first affected daughter
Smigiel, Robert
,
Laczmanska, Izabela
,
Sasiadek, Maria
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 113 KB
Your tags:
english, 2007
13
Phenotypic overlap in Melnick???Needles, serpentine fibula???polycystic kidney and Hajdu???Cheney syndromes: a clinical and molecular study in three patients
Albano, Lilian M.J.
,
Bertola, D??bora R.
,
Barba, M??rio F.
,
Valente, Marcelo
,
Robertson, Stephen P.
,
Kim, Chong A.
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 454 KB
Your tags:
english, 2007
14
Oculo-ectodermal syndrome: is arachnoid cyst a common finding?
Martin, Madelena M.
,
Lockspieler, Tai
,
Slavotinek, Anne M.
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 128 KB
Your tags:
english, 2007
15
Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption
Prothero, Joanna
,
Nicholl, Richard
,
Wilson, Judith
,
Wakeling, Emma L.
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 84 KB
Your tags:
english, 2007
16
Cardiomyopathy with renal anomalies in two siblings: a new recessive syndrome?
Leask, Kathryn M.
,
Kerr, Bronwyn
,
Ladusans, Ed
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 114 KB
Your tags:
english, 2007
17
Airway anomalies in the oculoauriculofrontonasal syndrome
Rom??n Corona-Rivera, Jorge
,
L??pez-Marure, Eloy
,
G??mez-Ru??z, Larissa
,
Carmen Abreu-Fern??ndez, Mar??a del
,
Quezada-L??pez, Claudia
,
P??rez-Molina, Jes??s
,
Santiba??ez-Escobar, Laura Patricia
Journal:
Clinical Dysmorphology
Year:
2007
Language:
english
File:
PDF, 205 KB
Your tags:
english, 2007
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