Authors:
REPASKE DR
MEDLEJ R
GULTEKIN EK
KRISHNAMANI MRS
HALABY G
FINDLING JW
PHILLIPS JA
Citation: Dr. Repaske et al., HETEROGENEITY IN CLINICAL MANIFESTATION OF AUTOSOMAL-DOMINANT NEUROHYPOPHYSEAL DIABETES-INSIPIDUS CAUSED BY A MUTATION ENCODING ALA(-1)-]VAL IN THE SIGNAL PEPTIDE OF THE ARGININE-VASOPRESSIN NEUROPHYSIN-II COPEPTIN PRECURSOR, The Journal of clinical endocrinology and metabolism, 82(1), 1997, pp. 51-56
Authors:
RICHARD I
BRENGUIER L
DINCER P
ROUDAUT C
BADY B
BURGUNDER JM
CHEMALY R
GARCIA CA
HALABY G
JACKSON CE
KURNIT DM
LEFRANC G
LEGUM C
LOISELET J
MERLINI L
NIVELONCHEVALLIER A
OLLAGNONROMAN E
RESTAGNO G
TOPALOGLU H
BECKMANN JS
Citation: I. Richard et al., MULTIPLE INDEPENDENT MOLECULAR ETIOLOGY FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A PATIENTS FROM VARIOUS GEOGRAPHICAL ORIGINS, American journal of human genetics, 60(5), 1997, pp. 1128-1138