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X
Turleau, Catherine
65  Ergebnisse:
Personensuche X
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1

Terminal 6q deletions cause brain malformations, a phenotyp..:

Lesieur‐Sebellin, Marion ; Till, Marianne ; Khau Van Kien, Philippe...
Prenatal Diagnosis.  42 (2021)  1 - p. 118-135 , 2021
Link: https://doi.org/10.1002/..
 
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2

SOX3 duplication: A genetic cause to investigate in fetuses..:

Hureaux, Marguerite ; Ben Miled, Selima ; Chatron, Nicolas...
Prenatal Diagnosis.  39 (2019)  11 - p. 1026-1034 , 2019
Link: https://doi.org/10.1002/..
 
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3

La duplication Xq25 : rôle crucial du gène STAG2 dans cette..:

Leroy, Camille ; Jacquemont, Marie-Line ; Doray, Bérénice...
Morphologie.  99 (2015)  327 - p. 169 , 2015
Link: https://doi.org/10.1016/..
 
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4

An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) ..:

Boutry‐Kryza, Nadia ; Labalme, Audrey ; Till, Marianne...
American Journal of Medical Genetics Part A.  158A (2011)  2 - p. 400-405 , 2011
Link: https://doi.org/10.1002/..
 
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5

Distal Xq duplication and functional Xq disomy:

Sanlaville, Damien ; Schluth-Bolard, Caroline ; Turleau, Catherine
Orphanet Journal of Rare Diseases.  4 (2009)  1 - p. , 2009
Link: https://doi.org/10.1186/..
 
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6

Monosomy 18p:

Turleau, Catherine
Orphanet Journal of Rare Diseases.  3 (2008)  1 - p. , 2008
Link: https://doi.org/10.1186/..
 
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7

De novo trisomy 20p of paternal origin:

Chaabouni, Myriam ; Turleau, Catherine ; Karboul, Lotfi...
American Journal of Medical Genetics Part A.  143A (2007)  10 - p. 1100-1103 , 2007
Link: https://doi.org/10.1002/..
 
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8

Intrachromosomal insertion mimicking a pericentric inversio..:

Ardalan, Azarnouche ; Prieur, Marguerite ; Choiset, Agnès...
American Journal of Medical Genetics Part A.  138A (2005)  3 - p. 288-293 , 2005
Link: https://doi.org/10.1002/..
 
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9

Molecular karyotyping in human constitutional cytogenetics:

Sanlaville, Damien ; Lapierre, Jean-Michel ; Turleau, Catherine...
European Journal of Medical Genetics.  48 (2005)  3 - p. 214-231 , 2005
Link: https://doi.org/10.1016/..
 
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10

Prenatal overgrowth and mosaic trisomy 15q25‐qter including..:

Faivre, Laurence ; Rousseau, Thierry ; Laurent, Nicole...
Prenatal Diagnosis.  24 (2004)  5 - p. 393-395 , 2004
Link: https://doi.org/10.1002/..
 
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11

In memoriam : Jean de Grouchy, 1926–2003:

Turleau, Catherine
Annales de Génétique.  47 (2004)  4 - p. 435-437 , 2004
Link: https://doi.org/10.1016/..
 
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12

Partial maternal heterodisomy of chromosome 17q25 in a case..:

Rio, Marlène ; Ozilou, Catherine ; Cormier-Daire, Valérie...
Human Genetics.  108 (2001)  6 - p. 511-515 , 2001
Link: https://doi.org/10.1007/..
 
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13

Subtle familial unbalanced translocation t(8;11)(p23.2;p15...:

Fert-Ferrer, Sandra ; Guichet, Agn�s ; Tantau, Julia...
Prenatal Diagnosis.  20 (2000)  6 - p. 511-515 , 2000
Link: https://doi.org/10.1002/..
 
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14

Apparent Sotos syndrome (cerebral gigantism) in a child wit..:

Faivre, Laurence ; Viot, G�raldine ; Prieur, Marguerite...
American Journal of Medical Genetics.  91 (2000)  4 - p. 273-276 , 2000
Link: https://doi.org/10.1002/..
 
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15

Dysmorphic phenotype and neurological impairment in 22 reti..:

Baud, Olivier ; Cormier‐Daire, Valérie ; Lyonnet, Stanislas...
Clinical Genetics.  55 (1999)  6 - p. 478-482 , 1999
Link: https://doi.org/10.1034/..
 
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