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Kuentz, Paul
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1

Correspondence on "The ClinGen Brain Malformation Variant C..:

Horta, Edgar ; Dahlen, Eric ; Engel, Camille...
Genetics in Medicine.  , 2024
Link: https://doi.org/10.1016/..
 
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2

Quelles explorations génétiques pour caractériser et prendr..:

Kuentz, Paul ; Vabres, Pierre
JMV-Journal de Médecine Vasculaire.  49 (2024)  1 - p. 7 , 2024
Link: https://doi.org/10.1016/..
 
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3

Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 du..:

Billes, Alexis ; Pujalte, Mathilde ; Jedraszak, Guillaume...
Clinical Genetics.  106 (2024)  3 - p. 234-246 , 2024
Link: https://doi.org/10.1111/..
 
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4

Clinical phenotype of the PIK3R1-related vascular overgrowt..:

Kuentz, Paul ; Engel, Camille ; Laeng, Mathieu...
British Journal of Dermatology.  , 2024
Link: https://doi.org/10.1093/..
 
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5

Variants of NAV3, a neuronal morphogenesis protein, cause i..:

Ghaffar, Amama ; Akhter, Tehmeena ; Strømme, Petter...
Communications Biology.  7 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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6

Allelic heterogeneity in a patient with postzygotic MTOR‐re..:

Engel, Camille ; Chevarin, Martin ; Piard, Juliette...
Clinical Genetics.  105 (2024)  5 - p. 581-583 , 2024
Link: https://doi.org/10.1111/..
 
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7

O06 Clinical phenotype of the Klippel-Trenaunay syndrome wi..:

Vabres, Pierre ; Engel, Camille ; Bessis, Didier...
British Journal of Dermatology.  190 (2024)  Supplement_1 - p. i3-i3 , 2024
Link: https://doi.org/10.1093/..
 
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8

Stepwise use of genomics and transcriptomics technologies i..:

Colin, Estelle ; Duffourd, Yannis ; Chevarin, Martin...
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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9

The "extreme phenotype approach" applied to male breast can..:

Chevarin, Martin ; Alcantara, Diana ; Albuisson, Juliette...
Oncotarget.  14 (2023)  1 - p. 111-125 , 2023
Link: https://doi.org/10.18632..
 
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10

TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Descript..:

Albokhari, Daniah ; Pritchard, Amanda Barone ; Beil, Adelyn...
American Journal of Medical Genetics Part A.  191 (2023)  5 - p. 1261-1272 , 2023
Link: https://doi.org/10.1002/..
 
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11

Further clinical and molecular characterization of an XLID ..:

Delanne, Julian ; Lecat, Magaly ; Blackburn, Patrick R....
European Journal of Medical Genetics.  66 (2023)  1 - p. 104670 , 2023
Link: https://doi.org/10.1016/..
 
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12

Surgical management of Chiari malformation type 1 associate..:

Di Rocco, Federico ; Licci, Maria Lucia ; Garde, Aurore...
European Journal of Medical Genetics.  66 (2023)  2 - p. 104678 , 2023
Link: https://doi.org/10.1016/..
 
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13

Spectre clinique et mutationnel des malformations vasculair..:

Kuentz, Paul ; Engel, Camille ; Laeng, Mathieu...
Morphologie.  107 (2023)  359 - p. 100617 , 2023
Link: https://doi.org/10.1016/..
 
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14

Double inversion paracentrique parentale du même bras chrom..:

Kuentz, Paul ; Vitobello, Antonio ; Keren, Boris...
Morphologie.  106 (2022)  354 - p. S17 , 2022
Link: https://doi.org/10.1016/..
 
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15

Same performance of exome sequencing before and after fetal..:

Bourgon, Nicolas ; Garde, Aurore ; Bruel, Ange-Line...
European Journal of Human Genetics.  30 (2022)  8 - p. 967-975 , 2022
Link: https://doi.org/10.1038/..
 
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