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Jezela‐Stanek, Aleksandra
157  results:
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1

PIGNencephalopathy: Characterizing the epileptology:

Bayat, Allan ; de Valles‐Ibáñez, Guillem ; Pendziwiat, Manuela...
Epilepsia.  63 (2022)  4 - p. 974-991 , 2022
Link: https://doi.org/10.1111/..
 
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2

Genetics of fetal growth restriction—Isolated is not syndro..:

Jezela‐Stanek, Aleksandra ; Kosinski, Przemyslaw
Prenatal Diagnosis.  41 (2020)  1 - p. 6-7 , 2020
Link: https://doi.org/10.1002/..
 
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3

Lessons learned from 40 novel PIGA patients and a review of..:

Bayat, Allan ; Knaus, Alexej ; Pendziwiat, Manuela...
Epilepsia.  61 (2020)  6 - p. 1142-1155 , 2020
Link: https://doi.org/10.1111/..
 
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4

Evidence of the milder phenotypic spectrum of c.1582G>A PIG..:

Jezela‐Stanek, Aleksandra ; Szczepanik, Elżbieta ; Mierzewska, Hanna...
Clinical Genetics.  98 (2020)  5 - p. 468-476 , 2020
Link: https://doi.org/10.1111/..
 
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5

The phenotype‐driven computational analysis yields clinical..:

Jezela‐Stanek, Aleksandra ; Ciara, Elżbieta ; Jurkiewicz, Dorota...
Molecular Genetics & Genomic Medicine.  8 (2020)  9 - p. , 2020
Link: https://doi.org/10.1002/..
 
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6

Pulmonary involvement in selected lysosomal storage disease..:

Jezela‐Stanek, Aleksandra ; Chorostowska‐Wynimko, Joanna ; Tylki‐Szymańska, Anna
The Clinical Respiratory Journal.  14 (2020)  5 - p. 422-429 , 2020
Link: https://doi.org/10.1111/..
 
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7

Is leucodystrophy really a feature of PIGT‐CDG?:

Mierzewska, Hanna ; Jezela‐Stanek, Aleksandra
Neuropathology and Applied Neurobiology.  46 (2020)  6 - p. 615-616 , 2020
Link: https://doi.org/10.1111/..
 
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8

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbi..:

Paprocka, Justyna ; Jezela‐Stanek, Aleksandra ; Koppolu, Agniesz...
Clinical Genetics.  96 (2019)  3 - p. 274-275 , 2019
Link: https://doi.org/10.1111/..
 
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9

Novel COL12A1 variant as a cause of mild familial extracell..:

Jezela‐Stanek, Aleksandra ; Walczak, Anna ; Łaźniewski, Michał...
Clinical Genetics.  95 (2019)  6 - p. 736-738 , 2019
Link: https://doi.org/10.1111/..
 
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10

The remarkable phenotypic variability of the p.Arg269HiS va..:

Jędrzejowska, Maria ; Dębek, Emilia ; Kowalczyk, Bartłomiej...
Muscle & Nerve.  59 (2018)  1 - p. 129-133 , 2018
Link: https://doi.org/10.1002/..
 
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11

Additional data on the clinical phenotype of Helsmoortel—Va..:

Krajewska‐Walasek, Małgorzata ; Jurkiewicz, Dorota ; Piekutowska‐Abramczuk, Dorota...
American Journal of Medical Genetics Part A.  170 (2016)  6 - p. 1647-1650 , 2016
Link: https://doi.org/10.1002/..
 
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12

The first case of a patient with de novo partial distal 16q..:

Kucharczyk, Marzena ; Kochański, Andrzej ; Jezela‐Stanek, Aleksandra...
American Journal of Medical Genetics Part A.  164 (2014)  10 - p. 2541-2550 , 2014
Link: https://doi.org/10.1002/..
 
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13

Minimal clinical findings in a patient with 15qter microdel..:

Jezela‐Stanek, Aleksandra ; Kucharczyk, Marzena ; Pelc, Magdalena..
American Journal of Medical Genetics Part A.  158A (2012)  4 - p. 922-926 , 2012
Link: https://doi.org/10.1002/..
 
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14

1.15 Mb microdeletion in chromosome band 20p13 associated w..:

Jezela‐Stanek, Aleksandra ; Kucharczyk, Marzena ; Pelc, Magdalena..
American Journal of Medical Genetics Part A.  161 (2012)  1 - p. 172-178 , 2012
Link: https://doi.org/10.1002/..
 
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15

Differences between predicted and established diagnoses of ..:

Jezela‐Stanek, Aleksandra ; Ciara, Elżbieta ; Małunowicz, Ewa...
Journal of Inherited Metabolic Disease.  33 (2010)  S3 - p. 241-248 , 2010
Link: https://doi.org/10.1007/..
 
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