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Volume 21; Issue 4
Main
Clinical Dysmorphology
Volume 21; Issue 4
Clinical Dysmorphology
Volume 21; Issue 4
1
MRI findings of intracranial malformations in a case with Fraser syndrome
Yesilkaya, Yakup
,
Hizal, Mustafa
,
Karli Oguz, Kader
,
Alanay, Yasemin
Journal:
Clinical Dysmorphology
Year:
2012
Language:
english
File:
PDF, 255 KB
Your tags:
english, 2012
2
Incontinentia pigmenti
Venugopalan, Poothirikovil
,
Pang, Ki
Journal:
Clinical Dysmorphology
Year:
2012
Language:
english
File:
PDF, 231 KB
Your tags:
english, 2012
3
VATER/VACTERL association
Bartels, Enrika
,
Schulz, Anna C.
,
Mora, Nicole W.
,
Pineda-Alvarez, Daniel E.
,
Wijers, Charlotte H. W.
,
Marcelis, Carlo M.
,
Stressig, Rüdiger
,
Ritgen, Jochen
,
Schmiedeke, Eberhard
,
Mattheisen, Manuel
,
Journal:
Clinical Dysmorphology
Year:
2012
Language:
english
File:
PDF, 274 KB
Your tags:
english, 2012
4
Interstitial microduplication 12q13.2–q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias
Wilson, Brian T.
,
Hellens, Stephen W.
,
Breese, Gareth J.
,
Zwolinski, Simon A.
,
Wright, Michael J.
Journal:
Clinical Dysmorphology
Year:
2012
Language:
english
File:
PDF, 405 KB
Your tags:
english, 2012
5
Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy
Harrison, Victoria
,
Hurst, Jane
,
Lloyd-Jani, Anjali
,
Lester, Tracy
,
Lever, Margaret
,
Man, Somai
,
O’Rourke, Anthony
,
Robinson, David
,
Tabiner, Melody
,
Williams, Rosy
,
Kini, Usha
Journal:
Clinical Dysmorphology
Year:
2012
Language:
english
File:
PDF, 298 KB
Your tags:
english, 2012
6
Omphalocele in a patient with Noonan syndrome
Longoni, Laura
,
D’Apolito, Valeria
,
Cianci, Paola
,
Selicorni, Angelo
Journal:
Clinical Dysmorphology
Year:
2012
Language:
english
File:
PDF, 185 KB
Your tags:
english, 2012
7
Down syndrome with partial trisomy of chromosome 21 because of a de-novo unbalanced translocation t(13;21)(q10;q22)
Maciejewski, Emilie
,
Vigneron, Jacqueline
,
Lambert, Laetitia
,
Bonnet, Céline
,
Hascoët, Jean-Michel
Journal:
Clinical Dysmorphology
Year:
2012
Language:
english
File:
PDF, 289 KB
Your tags:
english, 2012
8
Proximal femoral focal deficiency and fibular hemimelia associated with misoprostol use
Marchese, Joseph W.
,
Mullen, Matthew G.
,
Doherty, John H.
Journal:
Clinical Dysmorphology
Year:
2012
Language:
english
File:
PDF, 133 KB
Your tags:
english, 2012
9
A case of multiple congenital anomalies including unusual ear nodules and finger contractures
Davis, Morgan E.
,
Stevens, Abby K.
,
Weaver, David D.
Journal:
Clinical Dysmorphology
Year:
2012
Language:
english
File:
PDF, 297 KB
Your tags:
english, 2012
10
Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome
Croonen, Ellen A.
,
Yntema, Helger G.
,
van Minkelen, Rick
,
van den Ouweland, Ans M.W.
,
van der Burgt, Ineke
Journal:
Clinical Dysmorphology
Year:
2012
Language:
english
File:
PDF, 194 KB
Your tags:
english, 2012
11
A microduplication of the Rubinstein–Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation
Tüysüz, Beyhan
,
van Bon, Bregje W.M.
,
Alp, Zeynep
,
Güzel, Zeki
,
Veltman, Joris A.
,
de Vries, Bert B.A.
Journal:
Clinical Dysmorphology
Year:
2012
Language:
english
File:
PDF, 307 KB
Your tags:
english, 2012
12
Holoprosencephaly–polydactyly/pseudotrisomy 13
Bous, Sophia M.
,
Solomon, Benjamin D.
,
Graul-Neumann, Luitgard
,
Neitzel, Heidemarie
,
Hardisty, Emily E.
,
Muenke, Maximilian
Journal:
Clinical Dysmorphology
Year:
2012
Language:
english
File:
PDF, 402 KB
Your tags:
english, 2012
13
A new intellectual disability syndrome with digital anomalies
Dias, Patrícia
,
Medeira, Ana
,
Cordeiro, Isabel
Journal:
Clinical Dysmorphology
Year:
2012
Language:
english
File:
PDF, 288 KB
Your tags:
english, 2012
14
Another case of genitopatellar syndrome
Sankararaman, Senthilkumar
,
Kurepa, Dalibor
,
Velayuthan, Sujithra
,
Kakkilaya, Venkatakrishna
,
Gates, Thomas
,
Ursin, Susonne
,
Chen, Harold
Journal:
Clinical Dysmorphology
Year:
2012
Language:
english
File:
PDF, 263 KB
Your tags:
english, 2012
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