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PubPharm (21)
1
Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias
enthalten in:
American journal of medical genetics / C
| 2012
von
Terhal, P.
|
van Dommelen, P.
|
Le Merrer, M.
| +18
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2
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23How to cite this article: Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N. 2009. A locus for ophthalmo-acromelic syndrome mapped to 10p11.23. Am J Med Genet Part A 149A:336-342.
enthalten in:
American journal of medical genetics / C
| 2009
von
Hamanoue, H.
|
Megarbane, A.
|
Tohma, T.
| +11
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3
A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genesHow to cite this article: Mégarbané A, Chouery E, Ghanem I. 2008. A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes. Am J Med Genet Part A 146A:1865-1870.
enthalten in:
American journal of medical genetics / C
| 2008
von
Mégarbané, A.
|
Chouery, E.
|
Ghanem, I.
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4
Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR geneHow to cite this article: Mégarbané H, Cluzeau C, Bodemer C, Fraïtag S, Chababi-Atallah M, Mégarbané A, Smahi A. 2008. Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. Am J Med Genet Part A 146A:2657-2662.Hala Mégarbané and Céline Cluzeau contributed equally to this work.
enthalten in:
American journal of medical genetics / C
| 2008
von
Mégarbané, H.
|
Cluzeau, C.
|
Bodemer, C.
| +4
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5
Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome?How to cite this article: Mégarbané A, Samaras L, Chédid R, Chouery E, Chrétien D, Caillaud C, Abou-Ghoch J, Jalkh N. 2008. Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome? Am J Med Genet Part A 146A:3198-3201.
enthalten in:
American journal of medical genetics / C
| 2008
von
Mégarbané, A.
|
Samaras, L.
|
Chédid, R.
| +5
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6
Osseous dysplasia with severe short stature, multiple dislocations, and delayed bone age: Report on a second Lebanese patientFNR HREF="fn1">FN ID="fn1">How to cite this article: Mégarbané A. 2007. Osseous dysplasia with severe short stature, multiple dislocations, and delayed bone age: Report on a second Lebanese patient. Am J Med Genet Part A 143A:1782-1787.
enthalten in:
American journal of medical genetics / C
| 2007
von
Mégarbané, A.
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7
A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement. How to cite this article: Mégarbané A, Ghanem I, Waked N, Dagher F. 2006. A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement. Am J Med Genet Part A 140A:1491-1496.
enthalten in:
American journal of medical genetics / C
| 2006
von
Mégarbané, A.
|
Ghanem, I.
|
Waked, N.
| +1
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8
Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect
enthalten in:
American journal of medical genetics / C
| 2005
von
Delague, V.
|
Chouery, E.
|
Corbani, S.
| +6
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9
A new autosomal recessive oto-facial syndrome with midline malformations
enthalten in:
American journal of medical genetics / C
| 2005
von
Mégarbané, A.
|
Chouery, E.
|
Rassi, S.
| +1
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10
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: Report of a new family with additional features and review
enthalten in:
American journal of medical genetics / C
| 2004
von
Mégarbané, H.
|
Zablit, C.
|
Waked, N.
| +3
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Zeitschrift: American journal of medical genetics / C
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21
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21
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Zeitschriftentitel
American journal of medical genetics / C
Erscheinungszeitraum
1
2010-2019
20
2000-2009
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