Prenatal Presentation of ENPP1‐Associated Generalized Arterial Calcification of Infancy at 15 + 1 Weeks: A Fetal Phenotype–Genotype Report
I. Tekesin, Gunter Kerst, Loredana Delle Chiaie, April Dinwiddie et autres
0 citationsPrenatal Diagnosis
April Dinwiddie
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18Publications signalées
526Citations signalées
4Affiliations récentes
Institutions déclarées
Domaines associés
Animal Behavior and ReproductionInsect and Arachnid Ecology and BehaviorPlant and animal studiesMitochondrial Function and PathologyGlycosylation and Glycoproteins Research
Publications récentes
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
Debora Tibbe, Marie Ronja Vogt, Tess Holling, Lea D. Schlieben et autres
0 citationsThe American Journal of Human Genetics
Erratum to “Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity” [Mol Genet Metab. (2026) Vol. 148 Issue 2 109906]
André B. P. Kuilenburg, Hanna Mandel, Tameemi Abdalla Moady, Ronen Sloma et autres
0 citationsMolecular Genetics and Metabolism
Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity
André B. P. Kuilenburg, Hanna Mandel, Tameemi Abdalla Moady, Ronen Sloma et autres
0 citationsMolecular Genetics and Metabolism
Successful treatment of neonatal COQ2 deficiency with 4-hydroxybenzoic acid
Juliane Münch, Thomas Strahleck, Annette Seibt, Sander H J Smits et autres
1 citationBrain
First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report
Sumaiya Al-Rashdi, Lori Ekstrom, Aedin Collins, Heidi L. Schulz et autres
0 citationsFrontiers in Endocrinology
Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) – the clinical and molecular summary
Ewelina Bukowska‐Olech, Filip Glista, April Dinwiddie, Alexander Pepler et autres
1 citationEuropean Journal of Medical Genetics
COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.
Hanna Mandel, Cohen Kfir N, Ayalla Fedida, Shuster Biton E et autres
3 citationsYearbook of pediatric endocrinology
COG6‐CDG : Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development
Hanna Mandel, Nehama Cohen Kfir, Ayalla Fedida, Efrat Shuster Biton et autres
18 citationsClinical Genetics
Author response for " COG6‐CDG : Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development"
Hanna Mandel, Nehama Cohen Kfir, Ayalla Fedida, Efrat Shuster Biton et autres
0 citations
Pigment Cell Progenitors in Zebrafish Remain Multipotent through Metamorphosis
Ajeet Pratap Singh, April Dinwiddie, Prateek Mahalwar, Ursula Schach et autres
105 citationsDevelopmental Cell
Differential Expression of Ecdysone Receptor Leads to Variation in Phenotypic Plasticity across Serial Homologs
Antónia Monteiro, Xiaoling Tong, Ashley Bear, Seng Fatt Liew et autres
88 citationsPLoS Genetics
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