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European Journal of Human Genetics : EJHG|August 15, 2008
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegiaMoneef Shoukier, Juergen Neesen, Simone M Sauter, et al.
American Journal of Medical Genetics. Part A|January 17, 2012
A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathyMoneef Shoukier, Julia Schröder, Barbara Zoll, et al.
Genes|February 25, 2022
<i>LMNA</i> Mutation in a Family with a Strong History of Sudden Cardiac DeathLaura Keil, Filip Berisha, Dorit Knappe, et al.
The Journal of Experimental Medicine|April 12, 2018
Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiencyBaerbel Keller, Moneef Shoukier, Kathrin Schulz, et al.
American Journal of Medical Genetics. Part A|February 9, 2012
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139DSilke Pauli, Doris Steinemann, Kai Dittmann, et al.
Brain Stimulation|October 23, 2010
Brain-derived neurotrophic factor (BDNF) gene polymorphisms shape cortical plasticity in humansAndrea Antal, Leila Chaieb, Vera Moliadze, et al.
Diagnostics (Basel, Switzerland)|July 2, 2021
Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser))Gaetano Pietro Bulfamante, Laura Carpenito, Emma Bragantini, et al.
American Journal of Medical Genetics. Part A|December 6, 2011
A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defectMoneef Shoukier, Julia Wickert, Julia Schröder, et al.
Life (Basel, Switzerland)|May 25, 2024
Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the <i>PIGN</i> Gene-A Case SeriesAruna Marchetto, Susanne Leidescher, Theresia van Hoi, et al.
Journal of Neurochemistry|October 22, 2020
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerizationYingzhou Edward Pan, Debora Tibbe, Frederike Leonie Harms, et al.
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