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Results: 1-7 |
Results: 7
METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY IN A PATIENT WITH PHENOTYPIC FINDINGS OF ANGELMAN-SYNDROME
Authors: ARN PH WILLIAMS CA ZORI RT DRISCOLL DJ ROSENBLATT DS
Citation: Ph. Arn et al., METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY IN A PATIENT WITH PHENOTYPIC FINDINGS OF ANGELMAN-SYNDROME, American journal of medical genetics, 77(3), 1998, pp. 198-200
CONSTITUTIONAL AND MOSAIC LARGE NF1 GENE DELETIONS IN NEUROFIBROMATOSIS TYPE-1
Authors: RASMUSSEN SA COLMAN SD HO VT ABERNATHY CR ARN PH WEISS L SCHWARTZ C SAUL RA WALLACE MR
Citation: Sa. Rasmussen et al., CONSTITUTIONAL AND MOSAIC LARGE NF1 GENE DELETIONS IN NEUROFIBROMATOSIS TYPE-1, Journal of Medical Genetics, 35(6), 1998, pp. 468-471
HYPERPHENYLALANINEMIA WITH HIGH-LEVELS OF 7-BIOPTERIN IS ASSOCIATED WITH MUTATIONS IN THE PCBD GENE ENCODING THE BIFUNCTIONAL PROTEIN PTERIN-4A-CARBINOLAMINE DEHYDRATASE AND TRANSCRIPTIONAL COACTIVATOR (DCOH)
Authors: THONY B NEUHEISER F KIERAT L BLASKOVICS M ARN PH FERREIRA P REBRIN I AYLING J BLAU N
Citation: B. Thony et al., HYPERPHENYLALANINEMIA WITH HIGH-LEVELS OF 7-BIOPTERIN IS ASSOCIATED WITH MUTATIONS IN THE PCBD GENE ENCODING THE BIFUNCTIONAL PROTEIN PTERIN-4A-CARBINOLAMINE DEHYDRATASE AND TRANSCRIPTIONAL COACTIVATOR (DCOH), American journal of human genetics, 62(6), 1998, pp. 1302-1311
REPRODUCTIVE OUTCOME IN 3 FAMILIES WITH A SATELLITED CHROMOSOME-4 WITH REVIEW OF THE LITERATURE
Authors: ARN PH YOUNIE L RUSSO S ZACKOWSKI JL MANKINEN C ESTABROOKS L
Citation: Ph. Arn et al., REPRODUCTIVE OUTCOME IN 3 FAMILIES WITH A SATELLITED CHROMOSOME-4 WITH REVIEW OF THE LITERATURE, American journal of medical genetics, 57(3), 1995, pp. 420-424
CONCORDANCE OF CLINICAL FINDINGS IN SIBLINGS WITH THE SMITH-LEMLI-OPITZ SYNDROME
Authors: CUNNIFF CM ABUELO DN ARN PH BARNSHAD MJ CAREY JC NWOKORO NA MULVIHILL JJ ZACKAI EH KELLEY RI
Citation: Cm. Cunniff et al., CONCORDANCE OF CLINICAL FINDINGS IN SIBLINGS WITH THE SMITH-LEMLI-OPITZ SYNDROME, American journal of human genetics, 57(4), 1995, pp. 471-471
SCREENING FOR LARGE NF1 GENE DELETIONS USING LOSS-OF-HETEROZYGOSITY OF INTRAGENIC MARKERS
Authors: RASMUSSEN SA COLMAN SD HO VT WILLIAMS CA DRISCOLL DJ ARN PH ABERNATHY CR WALLACE MR
Citation: Sa. Rasmussen et al., SCREENING FOR LARGE NF1 GENE DELETIONS USING LOSS-OF-HETEROZYGOSITY OF INTRAGENIC MARKERS, American journal of human genetics, 57(4), 1995, pp. 1937-1937
MILD MANDIBULOFACIAL DYSOSTOSIS IN A CHILD WITH A DELETION OF 3P
Authors: ARN PH MANKINEN C JABS EW
Citation: Ph. Arn et al., MILD MANDIBULOFACIAL DYSOSTOSIS IN A CHILD WITH A DELETION OF 3P, American journal of medical genetics, 46(5), 1993, pp. 534-536
Risultati: 1-7 |