Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents’ Perspective on Ataxia Telangiectasia by Maartje Blom, Michiel H. D. Schoenaker, Myrthe Hulst, Martine C. de Vries, Corry M. R. Weemaes, Michèl A. A. P. Willemsen, Michèl A. A. P. Willemsen, Lidewij Henneman, Mirjam van der Burg

Get full text

Mutations in the aldh7a1 gene cause pyridoxine-dependent seizures by Jasper V. Been, Levinus A. Bok, Michèl A.A.P. Willemsen, Eduard A. Struys, Cornelis Jakobs

Get full text

An attenuated, adult case of AADC deficiency demonstrated by protein characterization by Giovanni Bisello, Christiaan G.J. Saris, Rossella Franchini, Marcel M. Verbeek, Michel A.A.P. Willemsen, Massimiliano Perduca, Mariarita Bertoldi

Get full text

Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum by Pippa Staps, Judith vanGaalen, Peter. vanDomburg, Peter M. Steijlen, Sacha Ferdinandusse, Tom denHeijer, Marieke M. B. Seyger, Thomas Theelen, Michèl A. A. P. Willemsen

Get full text

Multisensory Stimulation and Priming (MuSSAP) in 4-10 Months Old Infants with a Unilateral Brain Lesion: A Pilot Randomised Clinical Trial by Anke P. M. Verhaegh, Brenda E. Groen, Pauline B. M. Aarts, Raymond van Ee, Michèl A. A. P. Willemsen, Marijtje L. A. Jongsma, Maria W. G. Nijhuis-van der Sanden

Get full text

The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder by Dagmar K. Tiemens, Lotte Kleimeier, Erika Leenders, Ellen Wingbermühle, Renee L. Roelofs, Barbara Sibbles, Floor S.M. Oostwegel, Eva Vroonland, Conny van Leeuwen, Hanneke Niessen, Paul Sonnega, Anniek Duursma, Michel A. A. P. Willemsen, Jos M. T. Draaisma, Carina A.C.M. Pittens

Get full text