Not finding it? Sign in to also search OpenAlex live.
-
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome2022 Genome Medicine article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arélin, +64 more
25citations -
Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome2020 Journal of Clinical Ultrasound article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Judith Altmann, Denise Horn, Dirk Korinth, Thomas Eggermann, Wolfgang Henrich, Stefan Verlohren
12citations -
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family2022 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Saskia Koene, Floortje Klerx‐Melis, Arno A.W. Roest, Maarten C. Kleijwegt, Marianne Bootsma, Monique C. Haak, +4 more
4citations -
Long Term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism2023 Journal of Clinical Research in Pediatric Endocrinology article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Nur Berna Çelik, Monique Losekoot, Emregül Işık, E. Nazli Gonc, Ayfer Alikaşifoğlu, Nurgün Kandemir, +1 more
2citations -
Proximal Deletions of 14q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic Features2025 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jennifer Black, Robert Roger Lebel, Ria Garg, Maayke A. de Koning, Claudia A. L. Ruivenkamp, Himanshu Goel, +1 more
1citations -
monarch-initiative/mondo: v2026-02-032026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +21 more
0citations -
monarch-initiative/mondo: v2026-01-062026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +20 more
0citations