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Reynoso, Francis Jeshira
28  results:
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1

An Atypical Presentation of a Male with Oral-Facial-Digital..:

Sharma, Sheena ; Kalish, Jennifer M. ; Goldberg, Ethan M...
Case Reports in Nephrology.  2016 (2016)  - p. 1-4 , 2016
Link: https://doi.org/10.1155/..
 
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2

Glycosylation Analysis for Congenital Disorders of Glycosyl..:

Li, Xueli ; Raihan, Mohd A. ; Reynoso, Francis Jeshira.
Current Protocols in Human Genetics.  86 (2015)  1 - p. , 2015
Link: https://doi.org/10.1002/..
 
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3

The Multimodal Approach for the Prevention of Thromboemboli..:

González Della Valle, Alejandro ; Reynoso, Francis Jeshira ; Ben Ari, Judith.
Seminars in Arthroplasty.  20 (2009)  4 - p. 241-250 , 2009
Link: https://doi.org/10.1053/..
 
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4

P532: Development, implementation, and preliminary results ..:

Bedoukian, Emma ; Reichert, Sara ; DeChene, Elizabeth...
Genetics in Medicine Open.  2 (2024)  - p. 101431 , 2024
Link: https://doi.org/10.1016/..
 
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5

Retrospective identification of patients with SRRM2‐related..:

Regan‐Fendt, Kelly E. ; Rippert, Alyssa L. ; Medne, Livija...
American Journal of Medical Genetics Part A.  191 (2023)  8 - p. 2149-2155 , 2023
Link: https://doi.org/10.1002/..
 
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6

The prevalence and phenotypic range associated with biallel..:

Pagnamenta, Alistair T. ; Belles, Rebecca S. ; Salbert, Bonnie Anne...
Clinical Genetics.  104 (2023)  1 - p. 121-126 , 2023
Link: https://doi.org/10.1111/..
 
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7

Low Arginine Suggesting the Diagnosis of Mitochondrial Card..:

Wongkittichote, Parith ; Cook, Edward B ; Reynoso Santos, Francis Jeshira...
The Journal of Applied Laboratory Medicine.  9 (2023)  2 - p. 404-407 , 2023
Link: https://doi.org/10.1093/..
 
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8

P401: Patients from historically marginalized backgrounds a..:

Priestley, Jessica ; Campbell, Ian ; Opio, Paula Roig...
Genetics in Medicine Open.  1 (2023)  1 - p. 100437 , 2023
Link: https://doi.org/10.1016/..
 
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9

Biallelic variants in TUBGCP6 result in microcephaly and ch..:

Thomas‐Wilson, Amanda ; Schacht, John P. ; Chitayat, David...
American Journal of Medical Genetics Part A.  191 (2023)  7 - p. 1935-1941 , 2023
Link: https://doi.org/10.1002/..
 
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10

Newborn Screening for X-Linked Adrenoleukodystrophy: Review..:

Priestley, Jessica R. C. ; Adang, Laura A. ; Drewes Williams, Sarah...
International Journal of Neonatal Screening.  8 (2022)  2 - p. 24 , 2022
Link: https://doi.org/10.3390/..
 
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11

Novel 22q11.2 duplication (LCR22A-LCR22H) in two sisters:

Durant, Jenna ; Meneses, Zaimary ; Reynoso Santos, Francis Jeshira
Molecular Genetics and Metabolism.  132 (2021)  - p. S120 , 2021
Link: https://doi.org/10.1016/..
 
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12

Heterotaxy in a patient with Noonan syndrome due to a RRAS2..:

Higgins, Simone ; Reynoso Santos, Francis Jeshira
Molecular Genetics and Metabolism.  132 (2021)  - p. S181 , 2021
Link: https://doi.org/10.1016/..
 
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13

Heterozygous variants that disturb the transcriptional repr..:

Snijders Blok, Lot ; Vino, Arianna ; den Hoed, Joery...
Genetics in Medicine.  23 (2021)  3 - p. 534-542 , 2021
Link: https://doi.org/10.1038/..
 
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14

Novel SOX10 variant in a girl with Waardenburg syndrome typ..:

Exantus, Raiza ; Shah, Sweeti ; Reynoso Santos, Francis Jeshira
Molecular Genetics and Metabolism.  132 (2021)  - p. S161-S162 , 2021
Link: https://doi.org/10.1016/..
 
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15

22q11.2 duplication plus: exome sequencing reveals dual dia..:

Meneses, Zaimary ; Durant, Jenna ; Reynoso Santos, Francis Jeshira
Molecular Genetics and Metabolism.  132 (2021)  - p. S130 , 2021
Link: https://doi.org/10.1016/..
 
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