Author/Creator: Gambarini, Alicia - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Gambarini, Alicia

1. Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome. Issue 8 (2nd July 2020)

Authors:: Mégarbané, André; Hana, Sayeeda; El‐Hayek, Stephany; Gambarini, Alicia; Al‐Ali, Mahmoud Taleb; Delague, Valérie
Journal:: American journal of medical genetics
Issue:: Volume 182:Issue 8(2020)
Page Start:: 1865
Record Type:: Journal Article
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2. Homozygous deletion of exons 2–7 within TGFB3 gene in a child with severe Loeys‐Dietz syndrome and Marfan‐like features. Issue 5 (5th February 2020)

Authors:: Mégarbané, André; Deepthi, Asha; Obeid, Marc; T. Al‐Ali, Mahmoud; Gambarini, Alicia; El‐Hayek, Stephany
Journal:: American journal of medical genetics
Issue:: Volume 182:Issue 5(2020)
Page Start:: 1230
Record Type:: Journal Article
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3. SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family. (2nd January 2021)

Authors:: Deepthi, Asha; Fakhoury, Omar; Daher, Mohamad; Gambarini, Alicia; El-Hayek, Stephany; Megarbane, André
Journal:: Ophthalmic genetics
Issue:: Volume 42:Number 1(2021)
Page Start:: 88
Record Type:: Journal Article
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4. SOX11-related syndrome: report on a new case and review. Issue 1 (January 2021)

Authors:: Wakim, Victor; Nair, Pratibha; Delague, Valérie; Bizzari, Sami; Al-Ali, Mahmoud Taleb; Castro, Christel; Gambarini, Alicia; El-Hayek, Stephany; Megarbane, André
Journal:: Clinical dysmorphology
Issue:: Volume 30:Issue 1(2021)
Page Start:
Record Type:: Journal Article
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