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Rivière, Jean-Baptiste
941  Ergebnisse:
Personensuche X
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1

P011: Variant interpretation in functionally defined patien..:

Rosenblatt, David ; Zacharias, Caitlin ; Arbabian, Kyana...
Genetics in Medicine Open.  2 (2024)  - p. 100888 , 2024
Link: https://doi.org/10.1016/..
 
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2

Twins with psychiatric features and a nonsense HRAS variant..:

Accogli, Andrea ; Collins Hutchinson, Meagan L. ; Krochmalnek, Eric...
Psychiatry Research Case Reports.  2 (2023)  2 - p. 100189 , 2023
Link: https://doi.org/10.1016/..
 
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3

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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4

CANTRK:

Stockley, Tracy L. ; Lo, Bryan ; Box, Adrian...
The Journal of Molecular Diagnostics.  25 (2023)  3 - p. 168-174 , 2023
Link: https://doi.org/10.1016/..
 
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5

Routine Clinically Detected Increased ROS1 Transcripts Are ..:

Grenier, Karl ; Rivière, Jean-Baptiste ; Bencheikh, Bouchra Ouled Amar...
JTO Clinical and Research Reports.  4 (2023)  7 - p. 100530 , 2023
Link: https://doi.org/10.1016/..
 
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6

Validity and diagnostic performance of a virtual reality-ba..:

Sagaspe, Patricia ; Amieva, Hélène ; Dartigues, Jean-François...
DIGITAL HEALTH.  9 (2023)  - p. , 2023
Link: https://doi.org/10.1177/..
 
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7

Could distal variants in ALG13 lead to atypical clinical pr..:

Accogli, Andrea ; Radenkovic, Silvia ; Ranatunga, Wasantha...
European Journal of Medical Genetics.  65 (2022)  4 - p. 104473 , 2022
Link: https://doi.org/10.1016/..
 
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8

A Clinically Validated Genetic Screening for Familial Hyper..:

Guerin, Amanda ; Riviere, Jean-Baptiste ; Ngufor, Linda Fri...
Journal of Clinical Lipidology.  16 (2022)  3 - p. e53-e54 , 2022
Link: https://doi.org/10.1016/..
 
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9

PCDH12 variants are associated with basal ganglia anomalies..:

Accogli, Andrea ; El Kosseifi, Charbel ; Saint-Martin, Christine...
European Journal of Medical Genetics.  65 (2022)  2 - p. 104405 , 2022
Link: https://doi.org/10.1016/..
 
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10

Genome and RNA sequencing in patients with methylmalonic ac..:

Abdrabo, Lina Sobhi ; Watkins, David ; Wang, Sophie Ran...
Genetics in Medicine.  24 (2022)  1 - p. 254 , 2022
Link: https://doi.org/10.1016/..
 
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11

Why all MODY variants are dominantly inherited: a hypothesi:

Li, Meihang ; Rivière, Jean-Baptiste ; Polychronakos, Constantin
Trends in Genetics.  38 (2022)  4 - p. 321-324 , 2022
Link: https://doi.org/10.1016/..
 
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12

Integrating NGS-derived mutational profiling in the diagnos..:

Ezer, Nicole ; Wang, Hangjun ; Corredor, Andrea Gomez...
Cancer Treatment and Research Communications.  29 (2021)  - p. 100484 , 2021
Link: https://doi.org/10.1016/..
 
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13

Psychiatric features and variable neurodevelopment outcome ..:

Accogli, Andrea ; Jarvis, G. Eric ; Schiavetto, Alessandra...
Journal of Genetics.  99 (2020)  1 - p. , 2020
Link: https://doi.org/10.1007/..
 
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14

Correction: Genome and RNA sequencing in patients with meth..:

Abdrabo, Lina Sobhi ; Watkins, David ; Wang, Sophie Ran...
Genetics in Medicine.  22 (2020)  7 - p. 1280 , 2020
Link: https://doi.org/10.1038/..
 
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15

POLR1B and neural crest cell anomalies in Treacher Collins ..:

Sanchez, Elodie ; Laplace-Builhé, Béryl ; Mau-Them, Frédéric Tran...
Genetics in Medicine.  22 (2020)  3 - p. 547-556 , 2020
Link: https://doi.org/10.1038/..
 
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