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Results: 1-12 |
Results: 12
ASN540THR SUBSTITUTION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-3 TYROSINE KINASE DOMAIN CAUSING HYPOCHONDROPLASIA
Authors: DEUTZTERLOUW PP LOSEKOOT M AALFS CM HENNEKAM RCM BAKKER E
Citation: Pp. Deutzterlouw et al., ASN540THR SUBSTITUTION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-3 TYROSINE KINASE DOMAIN CAUSING HYPOCHONDROPLASIA, Human mutation, 1998, pp. 62-65
TANDEM DUPLICATION OF 11P12-P13 IN A CHILD WITH BORDERLINE DEVELOPMENT DELAY AND EYE ABNORMALITIES - DOSE-EFFECT OF THE PAX6 GENE-PRODUCT
Authors: AALFS CM FANTES JA WENNIGERPRICK LJJM SLUIJTER S HENNEKAM RCM VANHEYNINGEN V HOOVERS JMN
Citation: Cm. Aalfs et al., TANDEM DUPLICATION OF 11P12-P13 IN A CHILD WITH BORDERLINE DEVELOPMENT DELAY AND EYE ABNORMALITIES - DOSE-EFFECT OF THE PAX6 GENE-PRODUCT, American journal of medical genetics, 73(3), 1997, pp. 267-271
PARENTAL SOMATIC AND GERM-LINE MOSAICISM FOR A FBN2 MUTATION AND ANALYSIS OF FBN2 TRANSCRIPT LEVELS IN DERMAL FIBROBLASTS
Authors: PUTNAM EA PARK ES AALFS CM HENNEKAM RCM MILEWICZ DM
Citation: Ea. Putnam et al., PARENTAL SOMATIC AND GERM-LINE MOSAICISM FOR A FBN2 MUTATION AND ANALYSIS OF FBN2 TRANSCRIPT LEVELS IN DERMAL FIBROBLASTS, American journal of human genetics, 60(4), 1997, pp. 818-827
CATARACTS, RADICULOMEGALY, SEPTAL HEART-DEFECTS AND HEARING-LOSS IN 2UNRELATED ADULT FEMALES WITH NORMAL INTELLIGENCE AND SIMILAR FACIAL APPEARANCE - CONFIRMATION OF A SYNDROME
Authors: AALFS CM OOSTERWIJK JC VANSCHOONEVELD MJ BEGEMAN CJ WABEKE KB HENNEKAM RCM
Citation: Cm. Aalfs et al., CATARACTS, RADICULOMEGALY, SEPTAL HEART-DEFECTS AND HEARING-LOSS IN 2UNRELATED ADULT FEMALES WITH NORMAL INTELLIGENCE AND SIMILAR FACIAL APPEARANCE - CONFIRMATION OF A SYNDROME, Clinical dysmorphology, 5(2), 1996, pp. 93-103
FURTHER DELINEATION OF THE ACRO-RENAL-OCULAR SYNDROME
Authors: AALFS CM VANSCHOONEVELD MJ VANKEULEN EM HENNEKAM RCM
Citation: Cm. Aalfs et al., FURTHER DELINEATION OF THE ACRO-RENAL-OCULAR SYNDROME, American journal of medical genetics, 62(3), 1996, pp. 276-281
2 SUPERNUMERARY MARKER CHROMOSOMES, DERIVED FROM CHROMOSOME-6 AND CHROMOSOME-9, IN A BOY WITH MILD DEVELOPMENTAL DELAY
Authors: AALFS CM JACOBS ME NIESTEOTTER MA HENNEKAM RCM HOOVERS JMN
Citation: Cm. Aalfs et al., 2 SUPERNUMERARY MARKER CHROMOSOMES, DERIVED FROM CHROMOSOME-6 AND CHROMOSOME-9, IN A BOY WITH MILD DEVELOPMENTAL DELAY, Clinical genetics, 49(1), 1996, pp. 42-45
THE HOYERAAL-HREIDARSSON SYNDROME - THE 4TH CASE OF A SEPARATE ENTITYWITH PRENATAL GROWTH-RETARDATION, PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA
Authors: AALFS CM VANDENBERG H BARTH PG HENNEKAM RCM
Citation: Cm. Aalfs et al., THE HOYERAAL-HREIDARSSON SYNDROME - THE 4TH CASE OF A SEPARATE ENTITYWITH PRENATAL GROWTH-RETARDATION, PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA, European journal of pediatrics, 154(4), 1995, pp. 304-308
THE HOYERAAL-HREIDARSSON SYNDROME - DONT FORGET THE ASSOCIATED IMMUNODEFICIENCY - REPLY
Authors: AALFS CM VANDENBERG H BARTH PG HENNEKAM RCM
Citation: Cm. Aalfs et al., THE HOYERAAL-HREIDARSSON SYNDROME - DONT FORGET THE ASSOCIATED IMMUNODEFICIENCY - REPLY, European journal of pediatrics, 154(12), 1995, pp. 998-998
DIFFERENCES BETWEEN THE HOYERAAL-HREIDARSSON SYNDROME AND AN AUTOSOMAL RECESSIVE CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME
Authors: AALFS CM HENNEKAM RCM
Citation: Cm. Aalfs et Rcm. Hennekam, DIFFERENCES BETWEEN THE HOYERAAL-HREIDARSSON SYNDROME AND AN AUTOSOMAL RECESSIVE CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME, American journal of medical genetics, 58(4), 1995, pp. 385-385
FURTHER DELINEATION OF THE PARTIAL PROXIMAL TRISOMY 10Q SYNDROME
Authors: AALFS CM HOOVERS JMN NIESTEOTTER MA MANNENS HMAM HENNEKAM RCM LESCHOT NJ
Citation: Cm. Aalfs et al., FURTHER DELINEATION OF THE PARTIAL PROXIMAL TRISOMY 10Q SYNDROME, Journal of Medical Genetics, 32(12), 1995, pp. 968-971
POSTERIOR TIBIAL NERVE SOMATOSENSORY-EVOKED POTENTIALS IN SLOWLY PROGRESSIVE SPASTIC PARAPLEGIA - A COMPARATIVE-STUDY WITH CLINICAL SIGNS
Authors: AALFS CM KOELMAN JHTM ARAMIDEH M BOUR LJ BRUYN RPM DEVISSER BWO
Citation: Cm. Aalfs et al., POSTERIOR TIBIAL NERVE SOMATOSENSORY-EVOKED POTENTIALS IN SLOWLY PROGRESSIVE SPASTIC PARAPLEGIA - A COMPARATIVE-STUDY WITH CLINICAL SIGNS, Journal of neurology, 240(6), 1993, pp. 351-356
POSTERIOR TIBIAL AND SURAL NERVE SOMATOSENSORY-EVOKED POTENTIALS - A STUDY IN SPASTIC PARAPARESIS AND SPINAL-CORD LESIONS
Authors: AALFS CM KOELMAN JHTM MEYJES FEP DEVISSER BWO
Citation: Cm. Aalfs et al., POSTERIOR TIBIAL AND SURAL NERVE SOMATOSENSORY-EVOKED POTENTIALS - A STUDY IN SPASTIC PARAPARESIS AND SPINAL-CORD LESIONS, Electroencephalography and clinical neurophysiology, 89(6), 1993, pp. 437-441
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