A. Pawlikowska‐Haddal

Exome Sequencing Finds a Novel PCSK1 Mutation in a Child With Generalized Malabsorptive Diarrhea and Diabetes Insipidus

Jiafang Wang, S. Nelson, I. Lindberg, 2013, Journal of pediatric gastroenterology and nutrition.

Klinefelter's syndrome as a model of anomalous cerebral laterality: testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray.

D. Geschwind, S. Nelson, J. Ellison, 1998, Developmental genetics.

How useful are serum IGF-I measurements for managing GH replacement therapy in adults and children?

P. Cohen, D. Cook, A. Pawlikowska-Haddal, 2012, Pituitary.

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

S. Nelson, L. Hudgins, M. Adam, 2015, The Journal of clinical endocrinology and metabolism.

Advances in pediatric growth hormone therapy: IGF-I-based dosing.

P. Cohen, A. Pawlikowska-Haddal, A. Pawlikowska‐Haddal, 2006, Indian pediatrics.

The structural brain correlates of cognitive deficits in adults with Klinefelter's syndrome.

L. Itti, K. Boone, F. Mishkin, 2006, The Journal of clinical endocrinology and metabolism.