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Mehta, Lakshmi
216  results:
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1

P200: A novel 13q31.3q32.3 deletion identified on follow up..:

Berger, Sara ; Mito, Yoshiko ; Mehta, Lakshmi
Genetics in Medicine Open.  2 (2024)  - p. 101097 , 2024
Link: https://doi.org/10.1016/..
 
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2

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics.  111 (2024)  6 - p. 1240 , 2024
Link: https://doi.org/10.1016/..
 
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3

P242: Tissue specific pathogenic NIPBL variant causing Corn..:

Mehta, Lakshmi ; Begun, Yakira ; Sanyoura, May.
Genetics in Medicine Open.  2 (2024)  - p. 101138 , 2024
Link: https://doi.org/10.1016/..
 
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4

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics.  111 (2024)  4 - p. 778-790 , 2024
Link: https://doi.org/10.1016/..
 
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5

Homozygous deletion of the DSG3 terminal exon associated wi..:

Jiang, Nan ; Sewell, Taylor B. ; Kowalski, Theresa L....
American Journal of Medical Genetics Part A.  194 (2023)  2 - p. 389-393 , 2023
Link: https://doi.org/10.1002/..
 
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6

P118: Genotype-phenotype correlations in a female with a ch..:

Berger, Sara ; Mehta, Lakshmi ; Scott, Stuart
Genetics in Medicine Open.  1 (2023)  1 - p. 100147 , 2023
Link: https://doi.org/10.1016/..
 
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7

Cardiovascular manifestations of hypermobile Ehlers–Danlos ..:

Rashed, Eman R ; Ruiz Maya, Tania ; Black, Jennifer...
Vascular Medicine.  27 (2022)  3 - p. 283-289 , 2022
Link: https://doi.org/10.1177/..
 
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eP161: Homozygous deletion of the terminal exon of DSG3 ass..:

Kowalski, Theresa ; Jiang, Nan ; Lauren, Christine...
Genetics in Medicine.  24 (2022)  3 - p. S98-S99 , 2022
Link: https://doi.org/10.1016/..
 
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9

Maternal age and malformations due to vascular disruptions:..:

Mintz, Cassie ; Naik, Hetanshi ; Mehta, Lakshmi
Molecular Genetics and Metabolism.  132 (2021)  - p. S172 , 2021
Link: https://doi.org/10.1016/..
 
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10

Homozygous GDF1 mutation causing congenital heart defects i..:

Swaroop, Pooja ; Beltran, Carlos Mares ; Suer, Funda..
Molecular Genetics and Metabolism.  132 (2021)  - p. S143 , 2021
Link: https://doi.org/10.1016/..
 
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11

Further characterization of fetal, cardiac and extra-cardia..:

Fettig, Veronica ; Kontorovich, Amy ; Nelson, Zoe...
Molecular Genetics and Metabolism.  132 (2021)  - p. S129 , 2021
Link: https://doi.org/10.1016/..
 
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12

Dysautonomia in hypermobile Ehlers–Danlos syndrome and hype..:

Ruiz Maya, Tania ; Fettig, Veronica ; Mehta, Lakshmi..
American Journal of Medical Genetics Part A.  185 (2021)  12 - p. 3754-3761 , 2021
Link: https://doi.org/10.1002/..
 
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13

Headaches in hypermobility syndromes: A pain in the neck?:

Malhotra, Anuj ; Pace, Anna ; Ruiz Maya, Tania...
American Journal of Medical Genetics Part A.  182 (2020)  12 - p. 2902-2908 , 2020
Link: https://doi.org/10.1002/..
 
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14

Prenatal cytogenomic identification and molecular refinemen..:

Shi, Lisong ; Bai, Yan ; Kharbutli, Yara...
Molecular Genetics & Genomic Medicine.  7 (2019)  8 - p. , 2019
Link: https://doi.org/10.1002/..
 
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15

Protein-losing enteropathy and joint contractures caused by..:

Schussler, Edith ; Linkner, Rita V ; Levitt, Jacob...
Advances in Genomics and Genetics.  8 (2018)  - p. 17-21 , 2018
Link: https://doi.org/10.2147/..
 
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