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Wiener Klinische Wochenschrift|September 15, 2005
Transcultural pediatrics: compliance and outcome of phenylketonuria patients from families with an immigration backgroundOsman S Ipsiroglu, Marion Herle, Elisabeth Spoula, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|December 11, 2013
Long-term outcome at age 7-10 years after extreme prematurity - a prospective, two centre cohort study of children born before 25 completed weeks of gestation (1999-2003)Susanne Herber-Jonat, Silke Streiftau, Eva Knauss, et al.
Pediatric Obesity|November 1, 2019
Methylphenidate in children with monogenic obesity due to LEPR or MC4R deficiency improves feeling of satiety and reduces BMI-SDS-A case seriesStephanie Brandt, Julia von Schnurbein, Belinda Lennerz, et al.
Human Genetics|November 2, 2017
Mutations of PTPN23 in developmental and epileptic encephalopathyNadine Sowada, Mais Omar Hashem, Rüstem Yilmaz, et al.
American Journal of Human Genetics|February 12, 2011
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic diseaseHolger Cario, Desirée E C Smith, Henk Blom, et al.
Blood|December 23, 2006
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complicationsManfred Hönig, Michael H Albert, Ansgar Schulz, et al.
American Journal of Human Genetics|September 26, 2003
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosisSandra Hanks, Sarah Adams, Jenny Douglas, et al.
American Journal of Human Genetics|August 13, 2013
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosumLina Basel-Vanagaite, Tova Hershkovitz, Eli Heyman, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|January 15, 2017
Neurodevelopmental outcomes of extremely low birthweight infants randomised to different PCO2 targets: the PHELBI follow-up studyUlrich H Thome, Orsolya Genzel-Boroviczeny, Bettina Bohnhorst, et al.
Neonatology|January 4, 2018
Influence of PCO2 Control on Clinical and Neurodevelopmental Outcomes of Extremely Low Birth Weight InfantsUlrich H Thome, Jens Dreyhaupt, Orsolya Genzel-Boroviczeny, et al.
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