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Moortgat, Stephanie
57  results:
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1

CAMTA1‐related disorder: Phenotypic and molecular character..:

Al‐Kateb, Hussam ; Au, P. Y. Billie ; Berland, Siren...
Clinical Genetics.  , 2023
Link: https://doi.org/10.1111/..
 
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2

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances.  4 (2023)  1 - p. 100168 , 2023
Link: https://doi.org/10.1016/..
 
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3

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances.  3 (2022)  3 - p. 100102 , 2022
Link: https://doi.org/10.1016/..
 
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4

Phenotypes and genotypes in non‐consanguineous and consangu..:

Duerinckx, Sarah ; Désir, Julie ; Perazzolo, Camille...
Molecular Genetics & Genomic Medicine.  9 (2021)  9 - p. , 2021
Link: https://doi.org/10.1002/..
 
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5

A Case Series of Familial ARID1B Variants Illustrating Vari..:

van der Sluijs, Pleuntje J. ; Alders, Mariëlle ; Dingemans, Alexander J. M....
Genes.  12 (2021)  8 - p. 1275 , 2021
Link: https://doi.org/10.3390/..
 
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6

Further delineation of the female phenotype with KDM5C dise..:

Carmignac, Virginie ; Nambot, Sophie ; Lehalle, Daphné...
Clinical Genetics.  98 (2020)  1 - p. 43-55 , 2020
Link: https://doi.org/10.1111/..
 
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7

A second case of Okamoto syndrome caused by HNRNPK mutation:

Maystadt, Isabelle ; Deprez, Marie ; Moortgat, Stéphanie..
American Journal of Medical Genetics Part A.  182 (2020)  6 - p. 1537-1539 , 2020
Link: https://doi.org/10.1002/..
 
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8

Biallelic mutations in RTTN are associated with microcephal..:

Stouffs, Katrien ; Moortgat, Stéphanie ; Vanderhasselt, Tim...
European Journal of Medical Genetics.  61 (2018)  12 - p. 733-737 , 2018
Link: https://doi.org/10.1016/..
 
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9

Expanding the phenotypic spectrum associated with OPHN1 mut..:

Moortgat, Stéphanie ; Lederer, Damien ; Deprez, Marie...
European Journal of Medical Genetics.  61 (2018)  8 - p. 442-450 , 2018
Link: https://doi.org/10.1016/..
 
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10

Functional assessment of creatine transporter in control an..:

Joncquel-Chevalier Curt, Marie ; Bout, Marie-Adélaïde ; Fontaine, Monique...
Molecular Genetics and Metabolism.  123 (2018)  4 - p. 463-471 , 2018
Link: https://doi.org/10.1016/..
 
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11

HUWE1 variants cause dominant X-linked intellectual disabil..:

Moortgat, Stéphanie ; Berland, Siren ; Aukrust, Ingvild...
European Journal of Human Genetics.  26 (2017)  1 - p. 64-74 , 2017
Link: https://doi.org/10.1038/..
 
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12

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4..:

Lambert, Sophie ; Maystadt, Isabelle ; Boulanger, Sébastien...
European Journal of Medical Genetics.  59 (2016)  10 - p. 522-525 , 2016
Link: https://doi.org/10.1016/..
 
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13

Two novel EIF2S3 mutations associated with syndromic intell..:

Moortgat, Stéphanie ; Désir, Julie ; Benoit, Valérie...
American Journal of Medical Genetics Part A.  170 (2016)  11 - p. 2927-2933 , 2016
Link: https://doi.org/10.1002/..
 
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14

A new Turkish infant with clinical features of CS/CISS1 syn..:

Moortgat, Stephanie ; Benoit, Valerie ; Deprez, Marie..
European Journal of Medical Genetics.  57 (2014)  5 - p. 212-215 , 2014
Link: https://doi.org/10.1016/..
 
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15

Developmental delay and facial dysmorphism in a child with ..:

Moortgat, Stephanie ; Verellen-Dumoulin, Christine ; Maystadt, Isabelle...
European Journal of Medical Genetics.  54 (2011)  2 - p. 177-180 , 2011
Link: https://doi.org/10.1016/..
 
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