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X
Lengyel, Anna
167  Ergebnisse:
Personensuche X
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1

#1558 Mutational spectrum of X-linked hypophosphatemia (XLH..:

Balogh, Istvan ; Szabo, Tamas ; Reusz, Gyorgy...
Nephrology Dialysis Transplantation.  39 (2024)  Supplement_1 - p. , 2024
Link: https://doi.org/10.1093/..
 
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2

Oral sialic acid supplementation inNANS‐CDG: Results of a s..:

den Hollander, Bibiche ; Brands, Marion M. ; de Boer, Lonneke...
Journal of Inherited Metabolic Disease.  46 (2023)  5 - p. 956-971 , 2023
Link: https://doi.org/10.1002/..
 
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3

Collaborative Consultation with Families in the Context of ..:

, In: Family-Centered Care in Childhood Disability,
Lengyel, Anna - p. 13-29 , 2023
Link: https://doi.org/10.1007/..
 
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4

A Cross-Sectional Study of the Dermatological Manifestation..:

Anker, Pálma ; Fésűs, Luca ; Kiss, Norbert...
Diagnostics.  13 (2023)  14 - p. 2368 , 2023
Link: https://doi.org/10.3390/..
 
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5

Contributors:

, In: Twin Research for Everyone,
Almqvist, Catarina ; Ando, Juko ; Bartels, Meike... - p. xxiii-xxx , 2022
Link: https://doi.org/10.1016/..
 
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6

Microdeletions in 1q21 and 8q12.1 depict two additional mol..:

Baba, Naomi ; Lengyel, Anna ; Pinti, Eva...
Molecular Cytogenetics.  15 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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7

Chromosomal anomalies, monogenetic diseases, and leukaemia ..:

, In: Twin Research for Everyone,
Haltrich, Irén ; Lengyel, Anna - p. 665-686 , 2022
Link: https://doi.org/10.1016/..
 
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8

Clinical evaluation of rare copy number variations identifi..:

Lengyel, Anna ; Pinti, Éva ; Pikó, Henriett...
Molecular Cytogenetics.  15 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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9

A 22q11.2-microdeletiós szindróma klinikai jellemzői:

Szumutku, Fanni ; Kádár, Krisztina ; Kovács, Árpád Ferenc...
Orvosi Hetilap.  163 (2022)  1 - p. 21-30 , 2022
Link: https://doi.org/10.1556/..
 
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10

Chromosome 2q14.3 microdeletion encompassing CNTNAP5 gene i..:

Lengyel, Anna ; Pinti, Éva ; Nebral, Karin...
Journal of Genetics.  100 (2021)  2 - p. , 2021
Link: https://doi.org/10.1007/..
 
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11

NANS-CDG: Delineation of the Genetic, Biochemical, and Clin..:

den Hollander, Bibiche ; Rasing, Anne ; Post, Merel A....
Frontiers in Neurology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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12

Diagnostic difficulties and possibilities of NF1-like syndr..:

Pinti, Eva ; Nemeth, Krisztina ; Staub, Krisztina...
BMC Pediatrics.  21 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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13

Clinical and genetic findings in Hungarian pediatric patien..:

Lengyel, Anna ; Pinti, Éva ; Pikó, Henriett...
European Journal of Medical Genetics.  63 (2020)  10 - p. 104027 , 2020
Link: https://doi.org/10.1016/..
 
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14

Frequency of KCNQ1 variants causing loss of methylation of ..:

Eßinger, Carla ; Karch, Stephanie ; Moog, Ute...
Clinical Epigenetics.  12 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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15

What should we consider in the case of combined Down- and 4..:

Pinti, Eva ; Lengyel, Anna ; Fekete, Gyorgy.
BMC Pediatrics.  20 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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