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Author/Creator Sznajer, Yves

1. Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature. (September 2019)

Authors:
Biard, Jean-Marc; Steenhaut, Patricia; Bernard, Pierre; Race, Valérie; Sznajer, Yves
Journal:
European journal of obstetrics, gynecology, and reproductive biology
Issue:
Volume 240(2019)
Page Start:
232
Record Type:
Journal Article
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2. Autosomal recessive primary microcephaly due to ASPM mutations: An update. Issue 3 (16th January 2018)

Authors:
Létard, Pascaline; Drunat, Séverine; Vial, Yoann; Duerinckx, Sarah; Ernault, Anais; Amram, Daniel; Arpin, Stéphanie; Bertoli, Marta; Busa, Tiffany; Ceulemans, Berten; Desir, Julie; Doco‐Fenzy, Martine; Elalaoui, Siham Chafai; Devriendt, Koenraad; Faivre, Laurence; Francannet, Christine; Geneviève...
Journal:
Human mutation
Issue:
Volume 39:Issue 3(2018)
Page Start:
319
Record Type:
Journal Article
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4. EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. Issue 5 (15th March 2017)

Authors:
Issa, Sarah; Bondurand, Nadege; Faubert, Emmanuelle; Poisson, Sylvain; Lecerf, Laure; Nitschke, Patrick; Deggouj, Naima; Loundon, Natalie; Jonard, Laurence; David, Albert; Sznajer, Yves; Blanchet, Patricia; Marlin, Sandrine; Pingault, Veronique
Journal:
Human mutation
Issue:
Volume 38:Issue 5(2017)
Page Start:
581
Record Type:
Journal Article
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5. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. Issue 9 (15th July 2020)

Authors:
Abdelfattah, Fatima; Kariminejad, Ariana; Kahlert, Anne‐Karin; Morrison, Patrick J.; Gumus, Evren; Mathews, Katherine D.; Darbro, Benjamin W.; Amor, David J.; Walsh, Maie; Sznajer, Yves; Weiß, Luisa; Weidensee, Sabine; Chitayat, David; Shannon, Patrick; Bermejo‐Sánchez, Eva; Riaño‐Galán, Isolina;...
Journal:
Human mutation
Issue:
Volume 41:Issue 9(2020)
Page Start:
1615
Record Type:
Journal Article
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6. Exploring the genetic basis of 3MC syndrome: Findings in 12 further families. Issue 5 (20th January 2016)

Authors:
Urquhart, Jill; Roberts, Rebecca; de Silva, Deepthi; Shalev, Stavit; Chervinsky, Elena; Nampoothiri, Sheela; Sznajer, Yves; Revencu, Nicole; Gunasekera, Romesh; Suri, Mohnish; Ellingford, Jamie; Williams, Simon; Bhaskar, Sanjeev; Clayton‐Smith, Jill
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 5(2016)
Page Start:
1216
Record Type:
Journal Article
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8. Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2–24.1. Issue 7 (3rd April 2014)

Authors:
Bloch, Mercedes; Leonard, Anissa; Diplas, Andreas A.; Pepermans, Xavier; Emanuel, Beverly S.; Rocca, Maria Santa; Revencu, Nicole; Sznajer, Yves
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 7(2014.)
Page Start:
1789
Record Type:
Journal Article
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