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Fleischer, Julie
104  results:
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1

P239: Mosaic trisomy 17 and tetraploidy: A case report:

Ryder, Zach ; Groepper, Daniel ; Soluade, Fiyinfoluwa...
Genetics in Medicine Open.  2 (2024)  - p. 101135 , 2024
Link: https://doi.org/10.1016/..
 
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2

Spontaneous Coronary Artery Dissection and Fibromuscular Dy..:

Le, Quang ; Bhandari, Amit ; Fleischer, Julie.
Cureus.  , 2024
Link: https://doi.org/10.7759/..
 
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3

Multiple autosomal recessive conditions found within a Guat..:

Fleischer, Julie ; Cox, Sibyl ; Espina, Veronica
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108296 , 2024
Link: https://doi.org/10.1016/..
 
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P281: Atypical maternally inherited CDKN1C variant causing ..:

Groepper, Daniel ; Fleischer, Julie ; Lyman, Jacqueline
Genetics in Medicine Open.  2 (2024)  - p. 101177 , 2024
Link: https://doi.org/10.1016/..
 
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5

P110: Case report of APC promoter 1B deletion associated wi..:

O'Connor, Mary ; Groepper, Daniel ; Fleischer, Julie
Genetics in Medicine Open.  2 (2024)  - p. 100991 , 2024
Link: https://doi.org/10.1016/..
 
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6

P342: Broadening the phenotype of ABL1-associated disorder:

Vincent, Christopher ; Groepper, Daniel ; Mubayed, Lamya.
Genetics in Medicine Open.  1 (2023)  1 - p. 100370 , 2023
Link: https://doi.org/10.1016/..
 
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7

LATE ONSET TYROSINEMIA OF THE NEWBORN WITH HUMAN MILK-BASED..:

Fleischer, Julie ; Cox, Sibyl ; Thro, Gabrielle
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107412 , 2023
Link: https://doi.org/10.1016/..
 
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8

FRI479 Resistance To Thyroid Hormone Due To Thyroid Hormone..:

Omar Abdelkarim, Jumana ; Parveen, Sanober ; Jakoby, Michael G.
Journal of the Endocrine Society.  7 (2023)  Supplement_1 - p. , 2023
Link: https://doi.org/10.1210/..
 
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9

eP104: Two patients with autism secondary to ZBTB18 loss-of..:

Mahmoud, Laila ; Shaw, Joshua ; Croke, Brook.
Genetics in Medicine.  24 (2022)  3 - p. S67 , 2022
Link: https://doi.org/10.1016/..
 
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10

eP407: Aberrant KCNQ1 splicing as an emerging mechanism und..:

Thompson, Laura ; Thoreson, Emily ; Groepper, Daniel...
Genetics in Medicine.  24 (2022)  3 - p. S256 , 2022
Link: https://doi.org/10.1016/..
 
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11

Loeys–Dietz syndrome caused by 1q41 deletion including TGFB..:

Fry, Deanna ; Groepper, Daniel ; MacCarrick, Gretchen...
American Journal of Medical Genetics Part A.  188 (2022)  7 - p. 2237-2241 , 2022
Link: https://doi.org/10.1002/..
 
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12

CSNK2B: A broad spectrum of neurodevelopmental disability a..:

Ernst, Michelle E. ; Baugh, Evan H. ; Thomas, Amanda...
Epilepsia.  62 (2021)  7 - p. , 2021
Link: https://doi.org/10.1111/..
 
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13

Genotype–phenotype correlations and novel molecular insight..:

Mannucci, Ilaria ; Dang, Nghi D. P. ; Huber, Hannes...
Genome Medicine.  13 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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14

Loeys-Dietz syndrome caused by 1q41 deletion including TGFB..:

Fry, Deanna ; MacCarrick, Gretchen ; Groepper, Daniel..
Molecular Genetics and Metabolism.  132 (2021)  - p. S98 , 2021
Link: https://doi.org/10.1016/..
 
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15

TAOK1 is associated with neurodevelopmental disorder and es..:

Woerden, Geeske M. ; Bos, Melanie ; Konink, Charlotte...
Human Mutation.  42 (2021)  4 - p. 445-459 , 2021
Link: https://doi.org/10.1002/..
 
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