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Year | Number of Results |
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1999 | 2 |
2000 | 1 |
2001 | 1 |
2005 | 1 |
2015 | 1 |
2016 | 1 |
2024 | 0 |
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Page 1
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
Am J Med Genet A. 2015 Oct;167A(10):2314-8. doi: 10.1002/ajmg.a.37152. Epub 2015 May 10.
Am J Med Genet A. 2015.
PMID: 25959266
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerrière A, Devaux J, Melki J.
Maluenda J, et al. Among authors: coeslier ad.
Am J Hum Genet. 2016 Oct 6;99(4):928-933. doi: 10.1016/j.ajhg.2016.07.021. Epub 2016 Sep 8.
Am J Hum Genet. 2016.
PMID: 27616481
Free PMC article.
Item in Clipboard
The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.
Walter-Nicolet E, Coëslier A, Joriot S, Kacet N, Moerman A, Manouvrier-Hanu S.
Walter-Nicolet E, et al. Among authors: coeslier a.
Am J Med Genet. 1999 Dec 22;87(5):430-3. doi: 10.1002/(sici)1096-8628(19991222)87:5<430::aid-ajmg11>3.0.co;2-9.
Am J Med Genet. 1999.
PMID: 10594883
Review.
Item in Clipboard
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].
Morisot C, Millat G, Coeslier A, Bourgois B, Fontenoy E, Dobbelaere D, Verot L, Haouari N, Vaillant C, Gottrand F, Bogaert E, Thelliez P, Klosowski S, Djebara A, Bachiri A, Manouvrier S, Vanier MT.
Morisot C, et al. Among authors: coeslier a.
Arch Pediatr. 2005 Apr;12(4):434-7. doi: 10.1016/j.arcped.2005.01.015.
Arch Pediatr. 2005.
PMID: 15808435
French.
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[Dyggve-Melchior-Clausen syndrome: differential diagnosis of mucopolysaccharidosis type IV or Morquio disease].
Coëslier A, Boute-Bénéjean O, Moerman A, Fron D, Manouvrier-Hanu S.
Coëslier A, et al.
Arch Pediatr. 2001 Aug;8(8):838-42. doi: 10.1016/s0929-693x(01)00544-9.
Arch Pediatr. 2001.
PMID: 11524915
French.
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Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?
Manouvrier S, Moerman A, Coeslier A, Devisme L, Boute O, Le Merrer M.
Manouvrier S, et al. Among authors: coeslier a.
Am J Med Genet. 2000 Feb 28;90(5):351-5. doi: 10.1002/(sici)1096-8628(20000228)90:5<351::aid-ajmg1>3.0.co;2-k.
Am J Med Genet. 2000.
PMID: 10706353
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Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.
Manouvrier-Hanu S, Amiel J, Jacquot S, Merienne K, Moerman A, Coëslier A, Labarriere F, Vallée L, Croquette MF, Hanauer A.
Manouvrier-Hanu S, et al. Among authors: coeslier a.
J Med Genet. 1999 Oct;36(10):775-8. doi: 10.1136/jmg.36.10.775.
J Med Genet. 1999.
PMID: 10528858
Free PMC article.
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