AAAAAA

   
Results: 1-25 | 26-33
Results: 1-25/33
PENILE NEUROFIBROMAS
Authors: KOUSSEFF BG
Citation: Bg. Kousseff, PENILE NEUROFIBROMAS, European journal of human genetics, 6, 1998, pp. 1142-1142
LENZ-SYNDROME IN 2 SISTERS - CLINICOPATHOLOGICAL CORRELATIONS OF THE OCULAR ANOMALIES
Authors: KRISHNAMURTHY MS URBAN RC KOUSSEFF BG MARGO CE
Citation: Ms. Krishnamurthy et al., LENZ-SYNDROME IN 2 SISTERS - CLINICOPATHOLOGICAL CORRELATIONS OF THE OCULAR ANOMALIES, Journal of pediatric ophthalmology and strabismus, 35(2), 1998, pp. 96-99
NF1 MUTATION ANALYSIS USING A COMBINED HETERODUPLEX SSCP APPROACH/
Authors: ABERNATHY CR RASMUSSEN SA STALKER HJ ZORI R DRISCOLL DJ WILLIAMS CA KOUSSEFF BG WALLACE MR
Citation: Cr. Abernathy et al., NF1 MUTATION ANALYSIS USING A COMBINED HETERODUPLEX SSCP APPROACH/, Human mutation, 9(6), 1997, pp. 548-554
EXPANDED PHENOTYPE OF CRANIOECTODERMAL DYSPLASIA (SENSENBRENNER-SYNDROME)
Authors: AMAR MJA SUTPHEN R KOUSSEFF BG
Citation: Mja. Amar et al., EXPANDED PHENOTYPE OF CRANIOECTODERMAL DYSPLASIA (SENSENBRENNER-SYNDROME), American journal of medical genetics, 70(4), 1997, pp. 349-352
BRONCHOPULMONARY-FOREGUT MALFORMATIONS - A CONTINUUM OF PARACRINE HAMARTOMAS
Authors: KOUSSEFF BG GILBERTBARNESS E DEBICHSPICER D
Citation: Bg. Kousseff et al., BRONCHOPULMONARY-FOREGUT MALFORMATIONS - A CONTINUUM OF PARACRINE HAMARTOMAS, American journal of medical genetics, 68(1), 1997, pp. 12-17
DURAL ECTASIA IN EHLERS-DANLOS-SYNDROME
Authors: KOUSSEFF BG CLAUS JA
Citation: Bg. Kousseff et Ja. Claus, DURAL ECTASIA IN EHLERS-DANLOS-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 580-580
GIANT, PREDOMINANTLY VASCULAR, HAMARTOMAS OF THE FACE - MANAGEMENT AND INTERPRETATION
Authors: RUAS EJ KOUSSEFF BG
Citation: Ej. Ruas et Bg. Kousseff, GIANT, PREDOMINANTLY VASCULAR, HAMARTOMAS OF THE FACE - MANAGEMENT AND INTERPRETATION, American journal of human genetics, 61(4), 1997, pp. 625-625
UNIPARENTAL ISODISOMY OF CHROMOSOME-14 IN 2 CASES - AN ABNORMAL CHILDAND A NORMAL ADULT
Authors: PAPENHAUSEN PR MUELLER OT SUTCLIFFE M DIAMOND TM KOUSSEFF BG JOHNSON VP
Citation: Pr. Papenhausen et al., UNIPARENTAL ISODISOMY OF CHROMOSOME-14 IN 2 CASES - AN ABNORMAL CHILDAND A NORMAL ADULT, American journal of medical genetics, 66(1), 1996, pp. 90-90
MONOSOMY 6Q1 - SYNDROME DELINEATION
Authors: ROMIE SS HARTSFIELD JK SUTCLIFFE MJ DUMONT DP KOUSSEFF BG
Citation: Ss. Romie et al., MONOSOMY 6Q1 - SYNDROME DELINEATION, American journal of medical genetics, 62(2), 1996, pp. 105-108
RET MUTATION SCREENING IN FAMILIAL CUTANEOUS LICHEN AMYLOIDOSIS AND IN SKIN AMYLOIDOSIS ASSOCIATED WITH MULTIPLE ENDOCRINE NEOPLASIA
Authors: HOFSTRA RMW SIJMONS RH STELWAGEN T STULP RP KOUSSEFF BG LIPS CJM STEIJLEN PM VANVOORSTVADER PC BUYS CHCM
Citation: Rmw. Hofstra et al., RET MUTATION SCREENING IN FAMILIAL CUTANEOUS LICHEN AMYLOIDOSIS AND IN SKIN AMYLOIDOSIS ASSOCIATED WITH MULTIPLE ENDOCRINE NEOPLASIA, Journal of investigative dermatology, 107(2), 1996, pp. 215-218
PERIPHERAL NEUROPATHY IN EHLERS-DANLOS SYNDROME
Authors: GALAN E KOUSSEFF BG
Citation: E. Galan et Bg. Kousseff, PERIPHERAL NEUROPATHY IN EHLERS-DANLOS SYNDROME, Pediatric neurology, 12(3), 1995, pp. 242-245
MULTIPLE ENDOCRINE NEOPLASIA-2 (MEN-2) MEN-2A (SIPPLE SYNDROME)
Authors: KOUSSEFF BG
Citation: Bg. Kousseff, MULTIPLE ENDOCRINE NEOPLASIA-2 (MEN-2) MEN-2A (SIPPLE SYNDROME), Dermatologic clinics, 13(1), 1995, pp. 91-97
FRAGILE-X SYNDROME - DISCORDANT LEVELS OF CGG REPEAT MOSAICISM IN 2 BROTHERS
Authors: MUELLER OT HARTSFIELD JK AMAR MJA GALLARDO LA KOUSSEFF BG
Citation: Ot. Mueller et al., FRAGILE-X SYNDROME - DISCORDANT LEVELS OF CGG REPEAT MOSAICISM IN 2 BROTHERS, American journal of medical genetics, 60(4), 1995, pp. 302-306
UNIPARENTAL ISODISOMY OF CHROMOSOME-14 IN 2 CASES - AN ABNORMAL CHILDAND A NORMAL ADULT
Authors: PAPENHAUSEN PR MUELLER OT JOHNSON VP SUTCLIFFE M DIAMOND TM KOUSSEFF BG
Citation: Pr. Papenhausen et al., UNIPARENTAL ISODISOMY OF CHROMOSOME-14 IN 2 CASES - AN ABNORMAL CHILDAND A NORMAL ADULT, American journal of medical genetics, 59(3), 1995, pp. 271-275
XXY MALE WITH X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA (HAPPLE SYNDROME)
Authors: SUTPHEN R AMAR MJ KOUSSEFF BG TOOMEY KE
Citation: R. Sutphen et al., XXY MALE WITH X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA (HAPPLE SYNDROME), American journal of medical genetics, 57(3), 1995, pp. 489-492
CLITOROMEGALY IN NEUROFIBROMATOSIS
Authors: SUTPHEN R GALANGOMEZ E KOUSSEFF BG
Citation: R. Sutphen et al., CLITOROMEGALY IN NEUROFIBROMATOSIS, American journal of medical genetics, 55(3), 1995, pp. 325-330
TRACHEOESOPHAGEAL ANOMALIES IN OCULOAURICULOVERTEBRAL (GOLDENHAR) SPECTRUM
Authors: SUTPHEN R GALANGOMEZ E CORTADA X NEWKIRK PN KOUSSEFF BG
Citation: R. Sutphen et al., TRACHEOESOPHAGEAL ANOMALIES IN OCULOAURICULOVERTEBRAL (GOLDENHAR) SPECTRUM, Clinical genetics, 48(2), 1995, pp. 66-71
THE NEUROFIBROMATOSIS-NOONAN SYNDROME - CONTINUED CONTROVERSY
Authors: AMAR M ARTIGASLOPEZ M SUTPHEN R RANELLS JD KOUSSEFF BG
Citation: M. Amar et al., THE NEUROFIBROMATOSIS-NOONAN SYNDROME - CONTINUED CONTROVERSY, American journal of human genetics, 57(4), 1995, pp. 442-442
MULIBREY NANISM IN 2 US PATIENTS
Authors: SUTPHEN R ARTIGASLOPEZ M KOUSSEFF BG
Citation: R. Sutphen et al., MULIBREY NANISM IN 2 US PATIENTS, American journal of human genetics, 57(4), 1995, pp. 575-575
A FAMILY WITH TOWNES-BROCKS SYNDROME - A COUNSELING DILEMMA
Authors: JERVIS GA KOUSSEFF BG
Citation: Ga. Jervis et Bg. Kousseff, A FAMILY WITH TOWNES-BROCKS SYNDROME - A COUNSELING DILEMMA, American journal of human genetics, 57(4), 1995, pp. 887-887
BRONCHOPULMONARY-FOREGUT MALFORMATION, A CONTINUUM OF PARACRINE ANOMALIES
Authors: KOUSSEFF BG GILBERTBARNESS E DEBICHSPICER D
Citation: Bg. Kousseff et al., BRONCHOPULMONARY-FOREGUT MALFORMATION, A CONTINUUM OF PARACRINE ANOMALIES, American journal of human genetics, 57(4), 1995, pp. 1640-1640
UNIQUE INTERSTITIAL DELETION OF CHROMOSOME 7Q
Authors: ARTIGASLOPEZ M SUTPHEN R MUELLER OT DIAMOND TJ ESSIG YP KOUSSEFF BG
Citation: M. Artigaslopez et al., UNIQUE INTERSTITIAL DELETION OF CHROMOSOME 7Q, American journal of human genetics, 57(4), 1995, pp. 1789-1789
BRACHMANN-DELANGE-SYNDROME - 1994 UPDATE
Authors: KOUSSEFF BG NEWKIRK P ROOT AW
Citation: Bg. Kousseff et al., BRACHMANN-DELANGE-SYNDROME - 1994 UPDATE, Archives of pediatrics & adolescent medicine, 148(7), 1994, pp. 749-755
2 NF1 MUTATIONS - FRAMESHIFT IN THE GAP-RELATED DOMAIN, AND LOSS OF 2CODONS TOWARD THE 3' END OF THE GENE
Authors: ABERNATHY CR COLMAN SD KOUSSEFF BG WALLACE MR
Citation: Cr. Abernathy et al., 2 NF1 MUTATIONS - FRAMESHIFT IN THE GAP-RELATED DOMAIN, AND LOSS OF 2CODONS TOWARD THE 3' END OF THE GENE, Human mutation, 3(4), 1994, pp. 347-352
LOWRY-MACLEAN SYNDROME DOES EXIST
Authors: KOUSSEFF BG RANELLS JD
Citation: Bg. Kousseff et Jd. Ranells, LOWRY-MACLEAN SYNDROME DOES EXIST, American journal of medical genetics, 53(3), 1994, pp. 300-301
Risultati: 1-25 | 26-33