AAAAAA

   
Results: 1-15 |
Results: 15
THE CEREBRO-COSTO-MANDIBULAR SYNDROME - 7 PATIENTS AND REVIEW OF THE LITERATURE
Authors: VANDENENDE JJ SCHRANDERSTUMPEL C RUPPRECHT E MEINECKE P MAROTEAUX P DEDIESMULDERS C HAMEL BCJ
Citation: Jj. Vandenende et al., THE CEREBRO-COSTO-MANDIBULAR SYNDROME - 7 PATIENTS AND REVIEW OF THE LITERATURE, Clinical dysmorphology, 7(2), 1998, pp. 87-95
SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS
Authors: BUITING K DITTRICH B GROSS S LICH C FARBER C BUCHHOLZ T SMITH E REIS A BURGER J NOTHEN MM BARTHWITTE U JANSSEN B ABELIOVICH D LERER I VANDENOUWELAND AMW HALLEY DJJ SCHRANDERSTUMPEL C SMEETS H MEINECKE P MALCOLM S GARDNER A LALANDE M NICHOLLS RD FRIEND K SCHULZE A MATTHIJS G KOKKONEN H HILBERT P VANMALDERGEM L GLOVER G CARBONELL P WILLEMS P GILLESSENKAESBACH G HORSTHEMKE B
Citation: K. Buiting et al., SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS, American journal of human genetics, 63(1), 1998, pp. 170-180
ISOCHROMOSOME XQ IN KLINEFELTER SYNDROME - REPORT OF 7 NEW CASES
Authors: ARPS S KOSKEWESTPHAL T MEINECKE P MESCHEDE D NIESCHLAG E HARPRECHT W STEUBER E BACK E WOLFF G KERBER S HELD KR
Citation: S. Arps et al., ISOCHROMOSOME XQ IN KLINEFELTER SYNDROME - REPORT OF 7 NEW CASES, American journal of medical genetics, 64(4), 1996, pp. 580-582
BILATERAL PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS - 2 SIBLINGS REPRESENTING A PROBABLY NEW AUTOSOMAL RECESSIVE ENTITY
Authors: BONNEMANN CG MEINECKE P
Citation: Cg. Bonnemann et P. Meinecke, BILATERAL PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS - 2 SIBLINGS REPRESENTING A PROBABLY NEW AUTOSOMAL RECESSIVE ENTITY, American journal of medical genetics, 63(3), 1996, pp. 428-433
ECTRODACTYLY AND ABSENCE (HYPOPLASIA) OF THE TIBIA - ARE THERE DOMINANT AND RECESSIVE TYPES
Authors: MAJEWSKI F GOECKE T MEINECKE P
Citation: F. Majewski et al., ECTRODACTYLY AND ABSENCE (HYPOPLASIA) OF THE TIBIA - ARE THERE DOMINANT AND RECESSIVE TYPES, American journal of medical genetics, 63(1), 1996, pp. 185-189
DELINEATION OF A CONTIGUOUS GENE SYNDROME WITH MULTIPLE EXOSTOSES, ENLARGED PARIETAL FORAMINA, CRANIOFACIAL DYSOSTOSIS, AND MENTAL-RETARDATION, CAUSED BY DELETIONS ON THE SHORT ARM OF CHROMOSOME-11
Authors: BARTSCH O WUYTS W VANHUL W HECHT JT MEINECKE P HOGUE D WERNER W ZABEL B HINKEL GK POWELL CM SHAFFER LG WILLEMS PJ
Citation: O. Bartsch et al., DELINEATION OF A CONTIGUOUS GENE SYNDROME WITH MULTIPLE EXOSTOSES, ENLARGED PARIETAL FORAMINA, CRANIOFACIAL DYSOSTOSIS, AND MENTAL-RETARDATION, CAUSED BY DELETIONS ON THE SHORT ARM OF CHROMOSOME-11, American journal of human genetics, 58(4), 1996, pp. 734-742
FURTHER DELINEATION OF THE BRANCHIOOCULOFACIAL SYNDROME
Authors: LIN AE GORLIN RJ LURIE IW BRUNNER HG VANDERBURGT I NAUMCHIK IV RUMYANTSEVA NV STENGELRUTKOWSKI S ROSENBAUM K MEINECKE P MULLER D
Citation: Ae. Lin et al., FURTHER DELINEATION OF THE BRANCHIOOCULOFACIAL SYNDROME, American journal of medical genetics, 56(1), 1995, pp. 42-59
MOLECULAR DELINEATION OF A NEW CONTIGUOUS GENE SYNDROME WITH MULTIPLEEXOSTOSES ASSOCIATED WITH DELETIONS ON THE SHORT ARM OF CHROMOSOME-11
Authors: VANHUL W WUYTS W HECHT JT BARTSCH O MEINECKE P ZABEL B WERNER W HINKEL GK WILLEMS P
Citation: W. Vanhul et al., MOLECULAR DELINEATION OF A NEW CONTIGUOUS GENE SYNDROME WITH MULTIPLEEXOSTOSES ASSOCIATED WITH DELETIONS ON THE SHORT ARM OF CHROMOSOME-11, American journal of human genetics, 57(4), 1995, pp. 31-31
CLINICAL DESCRIPTION OF A NEW CONTIGUOUS GENE SYNDROME OF CHROMOSOME 11P WITH MULTIPLE EXOSTOSES, ENLARGED PARIETAL FORAMINA, MICROPENIS, AND MENTAL-RETARDATION
Authors: BARTSCH O HINKEL GK WERNER W MEINECKE P WUYTS W VANHUL W WILLEMS PJ
Citation: O. Bartsch et al., CLINICAL DESCRIPTION OF A NEW CONTIGUOUS GENE SYNDROME OF CHROMOSOME 11P WITH MULTIPLE EXOSTOSES, ENLARGED PARIETAL FORAMINA, MICROPENIS, AND MENTAL-RETARDATION, American journal of human genetics, 57(4), 1995, pp. 275-275
THE KABUKI (NIIKAWA-KUROKI) SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE IN 29 NON-JAPANESE PATIENTS
Authors: SCHRANDERSTUMPEL C MEINECKE P WILSON G GILLESSENKAESBACH G TINSCHERT S KONIG R PHILIP N RIZZO R SCHRANDER J PFEIFFER L MAATKIEVIT A VANDERBURGT I VANESSEN T LATTA E HILLIG U VERLOES A JOURNEL H FRYNS JP
Citation: C. Schranderstumpel et al., THE KABUKI (NIIKAWA-KUROKI) SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE IN 29 NON-JAPANESE PATIENTS, European journal of pediatrics, 153(6), 1994, pp. 438-445
DELETION MAPPING OF XP22.3 IN 2 MALE-PATIENTS WITH COMPLEX PHENOTYPES
Authors: JABLONKA S MEINECKE P GAL A
Citation: S. Jablonka et al., DELETION MAPPING OF XP22.3 IN 2 MALE-PATIENTS WITH COMPLEX PHENOTYPES, Cytogenetics and cell genetics, 67(4), 1994, pp. 338-338
ASSIGNMENT OF AN AUTOSOMAL SEX REVERSAL LOCUS (SRA1) AND CAMPOMELIC DYSPLASIA (CMPD1) TO 17Q24.3-Q25.1
Authors: TOMMERUP N SCHEMPP W MEINECKE P PEDERSEN S BOLUND L BRANDT C GOODPASTURE C GULDBERG P HELD KR REINWEIN H SAUGSTAD OD SCHERER G SKJELDAL O TODER R WESTVIK J VANDERHAGEN CB WOLF U
Citation: N. Tommerup et al., ASSIGNMENT OF AN AUTOSOMAL SEX REVERSAL LOCUS (SRA1) AND CAMPOMELIC DYSPLASIA (CMPD1) TO 17Q24.3-Q25.1, Nature genetics, 4(2), 1993, pp. 170-174
MOLECULAR ANALYSIS OF MUTATIONS IN THE GENE FMR-1 SEGREGATING IN FRAGILE X-FAMILIES
Authors: STEINBACH P WOHRLE D TARIVERDIAN G KENNERKNECHT I BARBI G EDLINGER H ENDERS H GOTZSOTHMANN M HEILBRONNER H HOSENFELD D KIRCHEISEN R MAJEWSKI F MEINECKE P PASSARGE E SCHMIDT A SEIDEL H WOLFF G ZANKL M
Citation: P. Steinbach et al., MOLECULAR ANALYSIS OF MUTATIONS IN THE GENE FMR-1 SEGREGATING IN FRAGILE X-FAMILIES, Human genetics, 92(5), 1993, pp. 491-498
CONGENITAL DIAPHRAGMATIC-HERNIA IN THE BRACHMANN-DELANGE SYNDROME
Authors: CUNNIFF C CURRY CJR CAREY JC GRAHAM JM WILLIAMS CA STENGELRUTKOWSKI S LUTTGEN S MEINECKE P
Citation: C. Cunniff et al., CONGENITAL DIAPHRAGMATIC-HERNIA IN THE BRACHMANN-DELANGE SYNDROME, American journal of medical genetics, 47(7), 1993, pp. 1018-1021
CHILD-SYNDROME - CASE-REPORT OF A RARE DE RMATOSIS
Authors: PETER C MEINECKE P
Citation: C. Peter et P. Meinecke, CHILD-SYNDROME - CASE-REPORT OF A RARE DE RMATOSIS, Hautarzt, 44(9), 1993, pp. 590-593
Risultati: 1-15 |