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Atallah, Isis
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1

Impact of neurofibromatosis type 1 on quality of life using..:

Cieza Rivera, Ana M. ; Lobato Fuertes, Carlos ; Fernández-Villa, Tania..
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

Molecular consequences of PQBP1 deficiency, involved in the..:

Courraud, Jérémie ; Engel, Camille ; Quartier, Angélique...
Molecular Psychiatry.  29 (2023)  2 - p. 287-296 , 2023
Link: https://doi.org/10.1038/..
 
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3

Prenatal Diagnosis of Gómez-López-Hernández Syndrome:

Pomar, Leo ; Rieder, Wawrzyniec ; Dubruc, Estelle...
Fetal Diagnosis and Therapy.  50 (2023)  2 - p. 92-97 , 2023
Link: https://doi.org/10.1159/..
 
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4

Blunted circadian variation of blood pressure in individual..:

Rivera, Ana M. Cieza ; Fernández-Villa, Tania ; Martín, Vicente.
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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5

The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC..:

Redin, Claire ; Pavlidou, Despina Christina ; Bhuiyan, Zahurul...
European Journal of Medical Genetics.  65 (2022)  12 - p. 104627 , 2022
Link: https://doi.org/10.1016/..
 
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6

Partial lipodystrophy, severe dyslipidaemia and insulin res..:

Atallah, Isis ; McCormick, Dominique ; Good, Jean-Marc...
Journal of Clinical Lipidology.  16 (2022)  5 - p. 583-590 , 2022
Link: https://doi.org/10.1016/..
 
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7

Phenotypic expansion of CACNA1C-associated disorders to inc..:

Rodan, Lance H. ; Spillmann, Rebecca C. ; Kurata, Harley T....
Genetics in Medicine.  23 (2021)  10 - p. 1922-1932 , 2021
Link: https://doi.org/10.1038/..
 
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8

Spinal cerebrotendinous xanthomatosis: A case report and li..:

Atallah, Isis ; Millán, Diego San ; Benoît, Wicki...
Molecular Genetics and Metabolism Reports.  26 (2021)  - p. 100719 , 2021
Link: https://doi.org/10.1016/..
 
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9

De novo DHDDS variants cause a neurodevelopmental and neuro..:

Galosi, Serena ; Edani, Ban H ; Martinelli, Simone...
Brain.  145 (2021)  1 - p. 208-223 , 2021
Link: https://doi.org/10.1093/..
 
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10

NGS-Based Diagnosis of Treatable Neurogenetic Disorders in ..:

Good, Jean-Marc ; Atallah, Isis ; Castro Jimenez, Mayte...
Genes.  12 (2021)  5 - p. 695 , 2021
Link: https://doi.org/10.3390/..
 
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11

Immune deficiency, autoimmune disease and intellectual disa..:

Atallah, Isis ; Quinodoz, Mathieu ; Campos‐Xavier, Belinda...
Clinical Genetics.  99 (2021)  6 - p. 780-788 , 2021
Link: https://doi.org/10.1111/..
 
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12

Correction: Phenotypic expansion of CACNA1C-associated diso..:

Rodan, Lance H. ; Spillmann, Rebecca C. ; Kurata, Harley T....
Genetics in Medicine.  23 (2021)  10 - p. 2016 , 2021
Link: https://doi.org/10.1038/..
 
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13

MMP-13, p53 in the Progression of Malignant Peripheral Nerv..:

Holtkamp, Nikola ; Atallah, Isis ; Okuducu, Ali-Fuat...
Neoplasia.  9 (2007)  8 - p. 671-677 , 2007
Link: https://doi.org/10.1593/..
 
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14

Mutation and expression of PDGFRA and KIT in malignant peri..:

Holtkamp, Nikola ; Okuducu, Ali Fuat ; Mucha, Jana...
Carcinogenesis.  27 (2005)  3 - p. 664-671 , 2005
Link: https://doi.org/10.1093/..
 
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15

Subclassification of Nerve Sheath Tumors by Gene Expression..:

Holtkamp, Nikola ; Reuß, David E. ; Atallah, Isis...
Brain Pathology.  14 (2004)  3 - p. 258-264 , 2004
Link: https://doi.org/10.1111/..
 
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