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Results: 1-18 |
Results: 18
THE SURGICAL-MANAGEMENT OF THE UPPER EXTREMITY ANOMALIES ASSOCIATED WITH DU-PAN-SYNDROME
Authors: LEES VC HERSH JH SCHEKER LR
Citation: Vc. Lees et al., THE SURGICAL-MANAGEMENT OF THE UPPER EXTREMITY ANOMALIES ASSOCIATED WITH DU-PAN-SYNDROME, Journal of hand surgery. British volume, 23B(1), 1998, pp. 57-61
CHANGING PHENOTYPE IN FLOATING-HARBOR SYNDROME
Authors: HERSH JH GROOM KR YEN FF VERDI GD
Citation: Jh. Hersh et al., CHANGING PHENOTYPE IN FLOATING-HARBOR SYNDROME, American journal of medical genetics, 76(1), 1998, pp. 58-61
MOLECULARLY PROVEN HYPOCHONDROPLASIA WITH CLOVERLEAF SKULL DEFORMITY - A NOVEL ASSOCIATION
Authors: ANGLE B HERSH JH CHRISTENSEN KM
Citation: B. Angle et al., MOLECULARLY PROVEN HYPOCHONDROPLASIA WITH CLOVERLEAF SKULL DEFORMITY - A NOVEL ASSOCIATION, Clinical genetics, 54(5), 1998, pp. 417-420
EXPANSION OF THE PHENOTYPE IN HENNEKAM-SYNDROME - A CASE WITH NEW MANIFESTATIONS
Authors: ANGLE B HERSH JH
Citation: B. Angle et Jh. Hersh, EXPANSION OF THE PHENOTYPE IN HENNEKAM-SYNDROME - A CASE WITH NEW MANIFESTATIONS, American journal of medical genetics, 71(2), 1997, pp. 211-214
XY GONADAL-DYSGENESIS ASSOCIATED WITH A MULTIPLE PTERYGIUM SYNDROME PHENOTYPE
Authors: ANGLE B HERSH JH YEN F VERDI GD
Citation: B. Angle et al., XY GONADAL-DYSGENESIS ASSOCIATED WITH A MULTIPLE PTERYGIUM SYNDROME PHENOTYPE, American journal of medical genetics, 68(1), 1997, pp. 7-11
ANOPHTHALMIA, INTRACEREBRAL CYSTS, AND CLEFT-LIP PALATE - EXPANSION OF THE PHENOTYPE IN OCULOCEREBROCUTANEOUS SYNDROME
Authors: ANGLE B HERSH JH
Citation: B. Angle et Jh. Hersh, ANOPHTHALMIA, INTRACEREBRAL CYSTS, AND CLEFT-LIP PALATE - EXPANSION OF THE PHENOTYPE IN OCULOCEREBROCUTANEOUS SYNDROME, American journal of medical genetics, 68(1), 1997, pp. 39-42
A MALE WITH FETAL VALPROATE SYNDROME AND AUTISM
Authors: WILLIAMS PG HERSH JH
Citation: Pg. Williams et Jh. Hersh, A MALE WITH FETAL VALPROATE SYNDROME AND AUTISM, Developmental Medicine and Child Neurology, 39(9), 1997, pp. 632-634
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME - ALTERED PHENOTYPE OF A MICRODELETION SYNDROME DUE TO THE PRESENCE OF A CYTOGENETIC ABNORMALITY
Authors: WILLIAMS PG HERSH JH YEN FF BARCH MJ KLEINERT HE KUNZ J KALFFSUSKE M
Citation: Pg. Williams et al., GREIG CEPHALOPOLYSYNDACTYLY SYNDROME - ALTERED PHENOTYPE OF A MICRODELETION SYNDROME DUE TO THE PRESENCE OF A CYTOGENETIC ABNORMALITY, Clinical genetics, 52(6), 1997, pp. 436-441
THE SIGNIFICANCE OF NON-PULMONARY STRUCTURAL ABNORMALITIES IN INFANTSWITH CONGENITAL DIAPHRAGMATIC-HERNIA
Authors: SSEMAKULA N STEWART D GOLDSMITH LJ HERSH JH
Citation: N. Ssemakula et al., THE SIGNIFICANCE OF NON-PULMONARY STRUCTURAL ABNORMALITIES IN INFANTSWITH CONGENITAL DIAPHRAGMATIC-HERNIA, American journal of human genetics, 61(4), 1997, pp. 562-562
A CLINICAL AND MOLECULAR STUDY OF MOSAICISM FOR TRISOMY-17
Authors: SHAFFER LG MCCASKILL C HERSH JH GREENBERG F LUPSKI JR
Citation: Lg. Shaffer et al., A CLINICAL AND MOLECULAR STUDY OF MOSAICISM FOR TRISOMY-17, Human genetics, 97(1), 1996, pp. 69-72
MIRROR-IMAGE DUPLICATION OF THE HANDS AND FEET - REPORT OF A SPORADICCASE WITH MULTIPLE CONGENITAL-ANOMALIES
Authors: HERSH JH CRUZ TVD PIETRANTONI M VONDRASEKASCHER G TURNQUEST MA YACOUB OA JOYCE MR
Citation: Jh. Hersh et al., MIRROR-IMAGE DUPLICATION OF THE HANDS AND FEET - REPORT OF A SPORADICCASE WITH MULTIPLE CONGENITAL-ANOMALIES, American journal of medical genetics, 59(3), 1995, pp. 341-345
DE-NOVO-1-10 BALANCED TRANSLOCATION IN AN INFANT WITH THANATOPHORIC DYSPLASIA - A CLUE TO THE LOCUS OF THE CANDIDATE GENE
Authors: HERSH JH YEN FF PEIPER SC BARCH MJ YACOUB OA VOSS DH ROBERTS JL
Citation: Jh. Hersh et al., DE-NOVO-1-10 BALANCED TRANSLOCATION IN AN INFANT WITH THANATOPHORIC DYSPLASIA - A CLUE TO THE LOCUS OF THE CANDIDATE GENE, Journal of Medical Genetics, 32(4), 1995, pp. 293-295
THE ASSOCIATION OF HEPATOBLASTOMA AND TRISOMY-18
Authors: KUEFER MU HERSH JH CAREY JC
Citation: Mu. Kuefer et al., THE ASSOCIATION OF HEPATOBLASTOMA AND TRISOMY-18, American journal of human genetics, 57(4), 1995, pp. 504-504
MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA
Authors: HERSH JH JOYCE MR SPRANGER J GOATLEY EC LACHMAN RS BHATT S RIMOIN DL
Citation: Jh. Hersh et al., MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA, American journal of medical genetics, 51(3), 1994, pp. 194-199
IDENTIFICATION OF 2 SINGLE-BASE SUBSTITUTIONS IN THE UGT1 GENE LOCUS WHICH ABOLISH BILIRUBIN URIDINE-DIPHOSPHATE GLUCURONOSYLTRANSFERASE ACTIVITY IN-VITRO
Authors: ERPS LT RITTER JK HERSH JH BLOSSOM D MARTIN NC OWENS IS
Citation: Lt. Erps et al., IDENTIFICATION OF 2 SINGLE-BASE SUBSTITUTIONS IN THE UGT1 GENE LOCUS WHICH ABOLISH BILIRUBIN URIDINE-DIPHOSPHATE GLUCURONOSYLTRANSFERASE ACTIVITY IN-VITRO, The Journal of clinical investigation, 93(2), 1994, pp. 564-570
IDENTIFICATION OF 2 SINGLE BASE SUBSTITUTIONS IN THE HUMAN GENE CODING FOR BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE (UDPGT) THAT ABOLISH ENZYME-ACTIVITY
Authors: ERPS LT RITTER JK HERSH JH MARTIN NC OWENS IS
Citation: Lt. Erps et al., IDENTIFICATION OF 2 SINGLE BASE SUBSTITUTIONS IN THE HUMAN GENE CODING FOR BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE (UDPGT) THAT ABOLISH ENZYME-ACTIVITY, The FASEB journal, 7(7), 1993, pp. 1073-1073
TRICHOTHIODYSTROPHY AND ASSOCIATED ANOMALIES - A VARIANT OF SIBIDS ORNEW SYMPTOM COMPLEX
Authors: HERSH JH KLEIN LR JOYCE MR HORDINSKY MK TSAI MY PALLER A HYZER R ZAX RH
Citation: Jh. Hersh et al., TRICHOTHIODYSTROPHY AND ASSOCIATED ANOMALIES - A VARIANT OF SIBIDS ORNEW SYMPTOM COMPLEX, Pediatric dermatology, 10(2), 1993, pp. 117-122
URETHRAL OBSTRUCTION SEQUENCE AND LOWER-LIMB DEFICIENCY - EVIDENCE FOR THE VASCULAR DISRUPTION HYPOTHESIS
Authors: PEREZAYTES A GRAHAM JM HERSH JH HOYME HE ALECK K CAREY JC
Citation: A. Perezaytes et al., URETHRAL OBSTRUCTION SEQUENCE AND LOWER-LIMB DEFICIENCY - EVIDENCE FOR THE VASCULAR DISRUPTION HYPOTHESIS, The Journal of pediatrics, 123(3), 1993, pp. 398-405
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