P. Lauffer MD publications

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Publications MD P. Lauffer

Positions
PhD Candidate, MD-PhD
Main activities
Research
Specialisation
Paediatric Endocrinology
Focus of research

Congenital hypothyroidism of central origin

2021

  • Lin Yuh Charn, Niceta Marcello, Muto Valentina, Vona Barbara, Pagnamenta Alistair T., Maroofian Reza, Beetz Christian, van Duyvenvoorde Hermine, Dentici Maria Lisa, Lauffer Peter, Vallian Sadeq, Ciolfi Andrea, Pizzi Simone, Bauer Peter, Grüning Nana Maria, Bellacchio Emanuele, Del Fattore Andrea, Petrini Stefania, Shaheen Ranad, Tiosano Dov, Halloun Rana, Pode-Shakked Ben, Albayrak Hatice Mutlu, Işık Emregül, Wit Jan M., Dittrich Marcus, Freire Bruna L., Bertola Debora R., Jorge Alexander A.L., Barel Ortal, Sabir Ataf H., Al Tenaiji Amal M.J., Taji Sulaima M., Al-Sannaa Nouriya, Al-Abdulwahed Hind, Digilio Maria Cristina, Irving Melita, Anikster Yair, Bhavani Gandham S.L., Girisha Katta M., Haaf Thomas, Taylor Jenny C., Dallapiccola Bruno, Alkuraya Fowzan S., Yang Ruey Bing, Tartaglia Marco SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling American journal of human genetics 2021;108 (1):115-133 [PubMed]

2020

  • Lauffer Peter, Miranda-Laferte Erick, van Duyvenvoorde Hermine A., van Haeringen Arie, Werner Franziska, Boudin Eveline, Schmidt Hannes, Mueller Thomas D., Kuhn Michaela, van der Kaay Daniëlle C. M. An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature Journal of clinical endocrinology and metabolism 2020;105 (7):2354-2366 [PubMed]
  • Lauffer Peter, Wit Jan Maarten, Oostdijk Wilma, Mooij Christiaan F., Drewes Noud A. J., Kamp Gerdine A. Diagnostiek van grote lengte bij kinderen Nederlands tijdschrift voor geneeskunde 2020;164 (22)
  • Lauffer Peter, van Schuppen Joost, Mooij Christiaan F. Epidermal inclusion cyst of the thyroid: a rare case of a nodule-like structure at ultrasound BJR Case Rep 2020;6 (4) [PubMed]
  • Lauffer Peter, Mooij Christiaan F., Zwaveling-Soonawala Nitash, van Trotsenburg A. S. Paul Reforming the male Tanner genital scale Journal of pediatric endocrinology & metabolism 2020;33 (3):425-426 [PubMed]

2019

  • Lauffer Peter, Kamp Gerdine A., Menke Leonie A., Wit Jan M., Oostdijk Wilma Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician Hormone research in paediatrics 2019;91 (5):293-310 [PubMed]