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Altarescu, Gheona
152  results:
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1

A novel RYR1 pathogenic variant − Common among Libyan Jews ..:

Regev, Miriam ; Dori, Amir ; Altarescu, Gheona...
Gene.  927 (2024)  - p. 148725 , 2024
Link: https://doi.org/10.1016/..
 
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2

Exploring the factors affecting classification and reportin..:

Michaelson‐Cohen, Rachel ; Salzer, Liat Sheelo ; Brabbing‐Goldstein, Dana...
Prenatal Diagnosis.  44 (2024)  4 - p. 511-518 , 2024
Link: https://doi.org/10.1002/..
 
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3

Facilitating intrafamily communication to enable earlier di..:

Germain, Dominique P. ; Al Murshedi, Fathiya ; Al Jasmi, Fatma...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107838 , 2024
Link: https://doi.org/10.1016/..
 
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4

Glycosphingolipid evaluation for Fabry disease patients rec..:

Auray-Blais, Christiane ; Lavoie, Pamela ; Martineau, Tristan...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107760 , 2024
Link: https://doi.org/10.1016/..
 
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5

SHaploseek is a sequencing-only, high-resolution method for..:

Backenroth, Daniel ; Altarescu, Gheona ; Zahdeh, Fouad...
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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6

Diagnostic Yield and Benefits of Whole Exome Sequencing in ..:

Werfel, Lina ; Martens, Helge ; Hennies, Imke...
Kidney International Reports.  8 (2023)  11 - p. 2439-2457 , 2023
Link: https://doi.org/10.1016/..
 
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7

Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of ..:

Tolkin, Lior ; Klein, Vanessa ; Frankel, Meir...
Journal of the Endocrine Society.  7 (2023)  7 - p. , 2023
Link: https://doi.org/10.1210/..
 
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8

The new face of cystic fibrosis in the era of population ge..:

Dotan, Miri ; Blau, Hannah ; Singer, Amihood...
Journal of Cystic Fibrosis.  , 2023
Link: https://doi.org/10.1016/..
 
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9

Whole blood transcriptomic profiling in the interpretation ..:

Altarescu, Gheona ; Murik, Omer ; Jurcut, Ruxandra...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 106998 , 2023
Link: https://doi.org/10.1016/..
 
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10

PGT-M FOR DE NOVO VARIANTS: DELETION BREAKPOINT SEQUENCING:

Hershlag, Avner ; Peyser, Alexandra ; Altarescu, Gheona
Fertility and Sterility.  120 (2023)  4 - p. e52 , 2023
Link: https://doi.org/10.1016/..
 
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11

Lyso-Gb3 as a biomarker for renal and cardiac involvement i..:

Ramaswami, Uma ; Altarescu, Gheona ; Fuller, Maria...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S103-S104 , 2022
Link: https://doi.org/10.1016/..
 
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12

Exacerbation of mild lung disorders to lethal pulmonary hyp..:

Yıldız Bölükbaşı, Esra ; Karolak, Justyna A. ; Szafranski, Przemyslaw...
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1420-1425 , 2022
Link: https://doi.org/10.1002/..
 
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13

An expert consensus on practical clinical recommendations a..:

Germain, Dominique P. ; Altarescu, Gheona ; Barriales-Villa, Roberto...
Molecular Genetics and Metabolism.  137 (2022)  1-2 - p. 49-61 , 2022
Link: https://doi.org/10.1016/..
 
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14

Preimplantation genetic testing (PGT) for copy number varia..:

Rotshenker-Olshinka, Keren ; Srebnik Moshe, Naama ; Weiss, Omri...
Journal of Assisted Reproduction and Genetics.  38 (2021)  3 - p. 719-725 , 2021
Link: https://doi.org/10.1007/..
 
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15

The benefits and challenges of family genetic testing in ra..:

Germain, Dominique P. ; Moiseev, Sergey ; Suárez‐Obando, Fernando...
Molecular Genetics & Genomic Medicine.  9 (2021)  5 - p. , 2021
Link: https://doi.org/10.1002/..
 
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